Published in Clin Genet on September 01, 1995
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New ultrarare restriction site-carrying transposons for bacterial genomics. Gene (1997) 1.02
Eleven X chromosome breakpoints associated with premature ovarian failure (POF) map to a 15-Mb YAC contig spanning Xq21. Genomics (1997) 1.01
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A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients. Hum Genet (2001) 0.95
A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet (1995) 0.95
Development of a video-based evaluation tool in Rett syndrome. J Autism Dev Disord (2006) 0.95
Upregulation of bronchioloalveolar carcinoma-derived C-X-C chemokines by tumor infiltrating inflammatory cells. Inflamm Res (2004) 0.94
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Myoblast transplantation between monozygotic twin girl carriers of Duchenne muscular dystrophy. Neuromuscul Disord (1994) 0.93
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X chromosome inactivation in 30 girls with Rett syndrome: analysis using the probe. Hum Genet (1996) 0.92
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Heat shock prevents lipopolysaccharide-induced tumor necrosis factor-alpha synthesis by rat mononuclear phagocytes. Eur J Immunol (1992) 0.91
Partial proximal trisomy of the long arm of chromosome 5 (q13 leads to q22) resulting from maternal insertion der ins (10;5). J Med Genet (1981) 0.91
Mosaic tetrasomy 12p. Clin Genet (1985) 0.91
Adrenoleukodystrophy: a complex chromosomal rearrangement in the Xq28 red/green-color-pigment gene region indicates two possible gene localizations. Am J Hum Genet (1991) 0.90
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A cost-minimization study of telemedicine. The case of telemonitored polysomnography to diagnose obstructive sleep apnea syndrome. Int J Technol Assess Health Care (2001) 0.88
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Chromosomal mapping of the human (MACS) and mouse (Macs) genes encoding the MARCKS protein. Genomics (1992) 0.87
MIC231, a naturally occurring mobile insertion cassette from Bacillus cereus. Mol Microbiol (1999) 0.87
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X-chromosome inactivation. Am J Med Genet (1994) 0.87
Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2. Am J Hum Genet (1992) 0.86
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Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probes. J Med Genet (1992) 0.86
Mesenteric venous thrombosis revealing both factor II G20212A mutation and hyperhomocysteinemia related to pernicious anemia. Gastroenterology (2000) 0.86
Tumor necrosis factor alpha and mesangial cells. Kidney Int (1992) 0.85
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Regulation of interleukin-10 production by beta-adrenergic agonists. Eur J Immunol (1996) 0.85
Diffuse panbronchiolitis in an Asian immigrant. Thorax (1996) 0.85
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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies. Clin Genet (2012) 0.85
Incontinentia pigmenti (type 1) and X;5 translocation. Ann Genet (1992) 0.84
A high-resolution interval map of the q21 region of the human X chromosome. Genomics (1995) 0.84
Pseudoknot and translational control in the expression of the S15 ribosomal protein. Biochimie (1996) 0.84
Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet A (2009) 0.84
Two Down syndrome patients with rec(21),dupq,inv(21)(p11;q2109) from a familial pericentric inversion. Ann Genet (1986) 0.84