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American Journal of Human Genetics|November 4, 2000
Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type IL M Astuto, M D Weston, C A Carney, et al.Journal of Medical Genetics|April 5, 2005
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndromeK Tatton-Brown, J Douglas, K Coleman, et al.Nature Communications|December 23, 2015
NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.Journal of Medical Genetics|January 31, 2006
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 casesB Kerr, M-A Delrue, S Sigaudy, et al.American Journal of Human Genetics|February 11, 1999
Molecular analysis of SALL1 mutations in Townes-Brocks syndromeJ Kohlhase, P E Taschner, P Burfeind, et al.Journal of Medical Genetics|September 27, 2005
Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patientsH L Archer, S D Whatley, J C Evans, et al.American Journal of Human Genetics|April 6, 2000
Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome geneD M Hagan, A J Ross, T Strachan, et al.American Journal of Human Genetics|June 21, 2002
CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafnessL M Astuto, J M Bork, M D Weston, et al.Molecular Syndromology|June 7, 2012
Update on Kleefstra SyndromeM H Willemsen, A T Vulto-van Silfhout, W M Nillesen, et al.Journal of Medical Genetics|January 8, 2008
Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesisB W M van Bon, D A Koolen, R Borgatti, et al.Pageof 16