Published in Neurogenetics on May 09, 2008
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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet (2011) 1.58
Patients with Sjögren-Larsson syndrome lack macular pigment. Ophthalmology (2010) 1.55
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Cell biological aspects of the vasopressin type-2 receptor and aquaporin 2 water channel in nephrogenic diabetes insipidus. Am J Physiol Renal Physiol (2006) 1.48
Lack of association between serum uric acid levels and outcome in acute ischemic stroke. J Neurol Sci (2012) 1.47
Angiogenin variants in Parkinson disease and amyotrophic lateral sclerosis. Ann Neurol (2011) 1.45
Progression rate and early surgical experience in the new aggressive aneurysms-osteoarthritis syndrome. Ann Thorac Surg (2012) 1.41
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet (2012) 1.40
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Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. Am J Hum Genet (2013) 1.32
Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet (2005) 1.32
Mutations in the human TBX4 gene cause small patella syndrome. Am J Hum Genet (2004) 1.31
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Depression comorbidity in spinocerebellar ataxia. Mov Disord (2011) 1.15
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FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands. Arch Neurol (2010) 1.08
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Cortical excitability is abnormal in patients with the "fixed dystonia" syndrome. Mov Disord (2008) 1.06
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Bilateral sporadic retinoblastoma in a child born after in vitro fertilization. Arch Ophthalmol (2002) 1.05
An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). Birth Defects Res A Clin Mol Teratol (2009) 1.05
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Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography. Ophthalmology (2007) 1.03
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Hereditary spastic paraplegia caused by a mutation in the VCP gene. Brain (2012) 1.02
A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes. Hum Mol Genet (2008) 1.02