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1
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Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia.
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Nat Genet
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2007
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2.94
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2
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Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.
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Genet Med
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2006
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2.78
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3
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Autism and other neuropsychiatric symptoms are prevalent in individuals with MeCP2 duplication syndrome.
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Ann Neurol
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2009
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2.07
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4
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Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
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Nat Genet
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2011
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1.93
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5
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Replicative mechanisms for CNV formation are error prone.
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Nat Genet
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2013
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1.54
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6
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Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier?
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Am J Hum Genet
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2005
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1.32
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7
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DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.
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Am J Med Genet A
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2006
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1.28
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8
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications.
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Hum Mol Genet
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2011
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1.25
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9
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
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Am J Hum Genet
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2004
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1.08
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10
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Diversity of telomere palindromic sequences and replication genes among Streptomyces linear plasmids.
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Appl Environ Microbiol
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2006
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1.06
|
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11
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Reduced penetrance in a Brazilian family with spinocerebellar ataxia type 10.
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Arch Neurol
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2007
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1.05
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12
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A self-ligation method for PCR-sequencing the telomeres of Streptomyces and Mycobacterium linear replicons.
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J Microbiol Methods
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2012
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1.04
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13
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[Chest radiographic findings in children with 2009 influenza A (H1N1) virus infection].
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Zhonghua Er Ke Za Zhi
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2011
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1.01
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14
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
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J Med Genet
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2011
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1.00
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15
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Heme oxygenase-1/p21WAF1 mediates peroxisome proliferator-activated receptor-gamma signaling inhibition of proliferation of rat pulmonary artery smooth muscle cells.
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FEBS J
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2010
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0.95
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16
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Discrete and essential roles of the multiple domains of Arabidopsis FHY3 in mediating phytochrome A signal transduction.
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Plant Physiol
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2008
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0.92
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17
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The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.
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Am J Med Genet A
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2008
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0.92
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18
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N,N-dimethyl-2-(2-amino-4-(18)F-fluorophenylthio)-benzylamine (4-(18)F-ADAM): an improved PET radioligand for serotonin transporters.
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J Nucl Med
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2003
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0.91
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19
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Small genomic rearrangements involving FMR1 support the importance of its gene dosage for normal neurocognitive function.
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Neurogenetics
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2012
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0.91
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20
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A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.
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J Invest Dermatol
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2003
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0.90
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21
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PORCN mutations and variants identified in patients with focal dermal hypoplasia through diagnostic gene sequencing.
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Genet Test Mol Biomarkers
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2010
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0.89
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22
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.
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Genet Med
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2011
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0.88
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23
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Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement.
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Mol Cytogenet
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2008
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0.87
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24
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Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.
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Neurogenetics
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2009
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0.87
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25
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Non-random X chromosome inactivation in Aicardi syndrome.
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Hum Genet
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2009
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0.86
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26
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Prevalence, incidence and risk factors of chronic heart failure in the type 2 diabetic population: systematic review.
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Curr Diabetes Rev
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2009
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0.86
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27
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Isolation and characterization of low-sulphur-tolerant mutants of Arabidopsis.
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J Exp Bot
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2010
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0.86
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28
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Characterization of replication and conjugation of Streptomyces circular plasmids pFP1 and pFP11 and their ability to propagate in linear mode with artificially attached telomeres.
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Appl Environ Microbiol
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2008
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0.86
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29
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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.
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Respir Res
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2014
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0.84
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30
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Facial expression recognition: can preschoolers with cochlear implants and hearing aids catch it?
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Res Dev Disabil
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2011
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0.83
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31
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Lingzhiols, unprecedented rotary door-shaped meroterpenoids as potent and selective inhibitors of p-Smad3 from Ganoderma lucidum.
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Org Lett
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2013
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0.83
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32
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Mutation Update for UBE3A variants in Angelman syndrome.
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Hum Mutat
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2014
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0.82
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33
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Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome.
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Am J Med Genet A
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2013
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0.82
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34
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Perceptions of ADHD in China and the United States: a preliminary study.
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J Atten Disord
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2005
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0.81
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35
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Molecular characterization of co-occurring Duchenne muscular dystrophy and X-linked oculo-facio-cardio-dental syndrome in a girl.
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Am J Med Genet A
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2009
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0.81
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36
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Synthesis of N,N-dimethyl-2-(2-amino-4-[18F]fluorophenylthio)benzylamine as a serotonin transporter imaging agent.
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Appl Radiat Isot
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2003
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0.79
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37
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Inhibition of respiratory syncytial virus in cultured cells by nucleocapsid gene targeted deoxyribozyme (DNAzyme).
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Antiviral Res
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2006
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0.79
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38
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Comparison of epidermal growth factor receptor mutations between primary tumors and lymph nodes in non-small cell lung cancer: a review and meta-analysis of published data.
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Asian Pac J Cancer Prev
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2014
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0.79
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39
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[Clinical paired study of comparing docetaxel plus capecitabine versus docetaxel plus epirubicin as first-line treatment in women with HER-2 negative advanced breast cancer].
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Zhonghua Yi Xue Za Zhi
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2013
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0.79
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40
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Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals.
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Am J Med Genet C Semin Med Genet
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2016
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0.78
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41
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Effect of CO2 enrichment on the glucosinolate contents under different nitrogen levels in bolting stem of Chinese kale (Brassica alboglabra L.).
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J Zhejiang Univ Sci B
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2009
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0.78
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42
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Portal hypertensive gastropathy and its interrelated factors.
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Hepatobiliary Pancreat Dis Int
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2003
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0.78
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43
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Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.
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Hum Mutat
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2013
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0.78
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44
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Inhibition of cGMP phosphodiesterase 5 suppresses matrix metalloproteinase-2 production in pulmonary artery smooth muscles cells.
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Clin Exp Pharmacol Physiol
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2009
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0.78
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45
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Endothelin-1 induces hypoxia inducible factor 1α expression in pulmonary artery smooth muscle cells.
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FEBS Lett
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2012
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0.77
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46
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Characterization of Streptomyces plasmid-phage pFP4 and its evolutionary implications.
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Plasmid
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2012
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0.77
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47
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A phase II open-label clinical study of comparing nab-paclitaxel with pemetrexed as second-line chemotherapy for patients with stage IIIB/IV non-small-cell lung cancer.
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Med Oncol
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2015
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0.77
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48
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A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotype.
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BMC Med Genet
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2012
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0.76
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49
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Sildenafil inhibits calcineurin/NFATc2-mediated cyclin A expression in pulmonary artery smooth muscle cells.
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Life Sci
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2011
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0.76
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50
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Infrequency of two deletion mutations at the DFNB1 locus in patients and controls.
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Am J Med Genet A
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2008
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0.76
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51
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Nutritional status deteriorates as the severity of diabetic foot ulcers increases and independently associates with prognosis.
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Exp Ther Med
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2012
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0.76
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52
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Characterization of a recurrent 3.8kb deletion involving exons 17a and 17b within the CFTR gene.
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J Cyst Fibros
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2012
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0.76
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53
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Pd-catalyzed highly regio-, diastereo-, and enantioselective allylic alkylation of α-fluorophosphonates.
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Chem Commun (Camb)
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2014
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0.75
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54
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Delineation of a 1.65 Mb critical region for hemihyperplasia and digital anomalies on Xq25.
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Am J Med Genet A
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2010
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0.75
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55
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Impact of the conversation map tools in patients with type 2 diabetes mellitus: A PRISMA-compliant meta-analysis of randomized controlled trials.
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Medicine (Baltimore)
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2016
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0.75
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56
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Medical genetics and genomics curricula focused on the laboratory specialties.
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Genet Med
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2012
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0.75
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57
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[A preliminary investigation on the serological and epidemiological characteristics of severe acute respiratory syndrome in children].
|
Zhonghua Er Ke Za Zhi
|
2004
|
0.75
|
|
58
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[Detection of linear chromosomes and plasmids among 15 genera in the Actinomycetales].
|
Wei Sheng Wu Xue Bao
|
2003
|
0.75
|
|
59
|
[Laparoendoscopic single-site surgery for male pseudohermaphroditism: the initial report].
|
Nan Fang Yi Ke Da Xue Xue Bao
|
2011
|
0.75
|
|
60
|
[Anatomical landmarks of skull base and safety of the skull base surgery].
|
Zhonghua Er Bi Yan Hou Ke Za Zhi
|
2004
|
0.75
|
|
61
|
One-pot surfactantless route to polyaniline hollow nanospheres with incontinuous multicavities and application for the removal of lead ions from water.
|
Langmuir
|
2012
|
0.75
|
|
62
|
[Doppler evaluation of hepatic perfusion in patients with fatty liver].
|
Zhonghua Gan Zang Bing Za Zhi
|
2004
|
0.75
|
|
63
|
Highly uniform self-assembled conducting polymer/gold fibrous nanocomposites: additive-free controllable synthesis and application as efficient recyclable catalysts.
|
Langmuir
|
2011
|
0.75
|
|
64
|
[Therapy effects of short-term lamivudine treatment on 22 hepatitis B patients with HBeAg-negative].
|
Zhonghua Gan Zang Bing Za Zhi
|
2003
|
0.75
|
|
65
|
[Clinical and diagnosis analysis of malignant lymphoma in nasal cavity and paranasal sinus].
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Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
|
2015
|
0.75
|
|
66
|
[Expression of gdnf and nos in adult zebrafish brain during the regeneration after spinal cord injury].
|
Yi Chuan
|
2013
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0.75
|
|
67
|
[Construction and effect of the recombinant pshRNA plasmid against respiratory syncystial virus M2-1 gene].
|
Zhonghua Er Ke Za Zhi
|
2005
|
0.75
|
|
68
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[Analysis of out-of-hospital emergency treatment for ventricular fibrillation between 2013 and 2016 in Shanghai].
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Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
|
2017
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0.75
|
|
69
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[Transurethral enucleation of the prostate for treatment of benign prostatic hyperplasia in patients less than 50 years old].
|
Nan Fang Yi Ke Da Xue Xue Bao
|
2010
|
0.75
|
|
70
|
[Rapid and high-efficient composting process of municipal sewage sludge].
|
Huan Jing Ke Xue
|
2005
|
0.75
|
|
71
|
[A retrospective study of one case of human infection by the highly pathogenic avian influenza A (H5N1)].
|
Zhonghua Jie He He Hu Xi Za Zhi
|
2006
|
0.75
|
|
72
|
[Evaluation on cardio-ankle vascular index derived from ultrasound].
|
Zhonghua Xin Xue Guan Bing Za Zhi
|
2008
|
0.75
|
|
73
|
[Laparoscopic radical cystectomy and detenial sigmoid colon orthotopic neobladder reconstruction for bladder tumor in a 3-year-old boy].
|
Nan Fang Yi Ke Da Xue Xue Bao
|
2009
|
0.75
|
|
74
|
[Comparison of effects between China made sirolimus-eluting stents and bare stents for treating patients with acute myocardial infarction].
|
Zhonghua Xin Xue Guan Bing Za Zhi
|
2007
|
0.75
|
|
75
|
[Recent advances in research and application of associated nitrogen-fixation with graminaceous plants].
|
Ying Yong Sheng Tai Xue Bao
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2004
|
0.75
|
|
76
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Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
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Hum Genet
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2009
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0.75
|
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77
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[Effect of the complex of casein phosphopeptide and amorphous calcium phosphate on reducing enamel demineralization and promoting remineralization].
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Zhonghua Kou Qiang Yi Xue Za Zhi
|
2013
|
0.75
|
|
78
|
Evaluation and comparison of three assays for molecular detection of spinal muscular atrophy.
|
Clin Chem Lab Med
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2016
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0.75
|
|
79
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[Single-port laparoscopic surgery for radical nephrectomy: report of 22 cases].
|
Nan Fang Yi Ke Da Xue Xue Bao
|
2012
|
0.75
|
|
80
|
[Purification of complicated industrial organic waste gas by complex absorption].
|
Huan Jing Ke Xue
|
2011
|
0.75
|
|
81
|
[Nasal vestibule cutaneous metastase of cancer: a case report].
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Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
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2011
|
0.75
|
|
82
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Angelman syndrome due to a termination codon mutation of the UBE3A gene.
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J Child Neurol
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2012
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0.75
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83
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[Analysis of resveratrol by pressurized-capillary electrochromatography].
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Se Pu
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2004
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0.75
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84
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Ag-nanoparticle-loaded mesoporous silica: spontaneous formation of Ag nanoparticles and mesoporous silica SBA-15 by a one-pot strategy and their catalytic applications.
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Langmuir
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2012
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0.75
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85
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Cover Image, Volume 172C, Number 1, March 2016.
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Am J Med Genet C Semin Med Genet
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2016
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0.75
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86
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[Novel functions of the Actinomycetales linear replicons and its applications].
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Wei Sheng Wu Xue Bao
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2003
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0.75
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87
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[Prevalence and prognostic factors for postoperative complications of uvulopalatopharyngoplasty in patients with obstructive sleep apnea hypopnea syndrome].
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Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
|
2008
|
0.75
|
|
88
|
Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.
|
Hum Genet
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2009
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0.75
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89
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Pd(II)-catalyzed decarboxylative cross-coupling of oxamic acids with potassium phenyltrifluoroborates under mild conditions.
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Chem Commun (Camb)
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2011
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0.75
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90
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Replication and inheritance of Nocardia plasmid pC1.
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FEMS Microbiol Lett
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2006
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0.75
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91
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[Effects of hepatocyte growth factor gene transfer in combination with echocardiographic destruction of microbubbles in a rat model of experimental myocardial infarction.].
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Zhonghua Xin Xue Guan Bing Za Zhi
|
2008
|
0.75
|