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European Journal of Human Genetics : EJHG|October 16, 2003
MECP2 analysis in mentally retarded patients: implications for routine DNA diagnosticsTjitske Kleefstra, Helger G Yntema, Willy M Nillesen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 21, 2011
Predictors and risk model development for menopausal age in fragile X premutation carriersMarian A Spath, Ton B Feuth, Arie P T Smits, et al.
Genes|February 25, 2023
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38Hedwig M Velde, Xanne J J Huizenga, Helger G Yntema, et al.
Genetic Testing and Molecular Biomarkers|December 24, 2011
A cytogenetic study in a large population of intellectually disabled IndonesiansFarmaditya E P Mundhofir, Tri Indah Winarni, Bregje W van Bon, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-IRocio Moran, André B P Kuilenburg, John Duley, et al.
American Journal of Human Genetics|May 22, 2004
High prevalence of SLC6A8 deficiency in X-linked mental retardationEfraim H Rosenberg, Ligia S Almeida, Tjitske Kleefstra, et al.
Cilia|November 28, 2018
Cellular ciliary phenotyping indicates pathogenicity of novel variants in IFT140 and confirms a Mainzer-Saldino syndrome diagnosisMachteld M Oud, Brooke L Latour, Zeineb Bakey, et al.
European Journal of Human Genetics : EJHG|May 6, 2021
Frequency and origin of the c.2090T>G p.(Leu697Trp) MYO3A variant associated with autosomal dominant hearing lossAndré S Bueno, Kelly Nunes, Alex M M Dias, et al.
European Journal of Human Genetics : EJHG|September 11, 2014
Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndromeGea Beunders, Sonja A de Munnik, Nathalie Van der Aa, et al.
American Journal of Medical Genetics. Part A|November 5, 2003
MECP2 gene mutations in non-syndromic X-linked mental retardation: phenotype-genotype correlationMarie Gomot, Chantal Gendrot, Alain Verloes, et al.
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