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American Journal of Medical Genetics. Part A|April 19, 2006
Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletionAndreas Tzschach, Ines Krause-Plonka, Corinna Menzel, et al.
American Journal of Medical Genetics. Part A|December 14, 2006
Characterization of a 5.3 Mb deletion in 15q14 by comparative genomic hybridization using a whole genome "tiling path" BAC array in a girl with heart defect, cleft palate, and developmental delayFikret Erdogan, Reinhard Ullmann, Wei Chen, et al.
European Journal of Human Genetics : EJHG|March 30, 2007
Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndromeJose M Belloso, Iben Bache, Miriam Guitart, et al.
American Journal of Medical Genetics. Part A|January 19, 2007
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGHAndreas Tzschach, Corinna Menzel, Fikret Erdogan, et al.
American Journal of Medical Genetics. Part A|February 14, 2006
Molecular cytogenetic analysis of a de novo interstitial deletion of 5q23.3q31.2 and its phenotypic consequencesAndreas Tzschach, Ines Krause-Plonka, Corinna Menzel, et al.
American Journal of Human Genetics|May 3, 2008
A defect in the TUSC3 gene is associated with autosomal recessive mental retardationMasoud Garshasbi, Valeh Hadavi, Haleh Habibi, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
Gene|May 30, 2002
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13-14 (IBD2)Zeynep Tümer, Peter J P Croucher, Lars Riff Jensen, et al.
Human Genetics|September 1, 2005
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephalySarah A Shoichet, Stella-Amrei Kunde, Petra Viertel, et al.
European Journal of Human Genetics : EJHG|November 29, 2007
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndromeLia Abbasi Moheb, Andreas Tzschach, Masoud Garshasbi, et al.
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