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European Journal of Human Genetics : EJHG|August 24, 2006
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3Andreas Tzschach, Maria Hoeltzenbein, Kirsten Hoffmann, et al.Archives of Iranian Medicine|October 8, 2015
Exome Sequencing and Linkage Analysis Identified Novel Candidate Genes in Recessive Intellectual Disability Associated with AtaxiaRoshanak Jazayeri, Hao Hu, Zohreh Fattahi, et al.Ophthalmic Genetics|March 26, 2008
Blepharophimosis-ptosis-epicanthus inversus syndrome in a girl with chromosome translocation t(2;3)(q33;q23)Andreas Tzschach, Christina Kelbova, Sabine Weidensee, et al.American Journal of Medical Genetics. Part A|April 2, 2010
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangementAndreas Tzschach, Corinna Menzel, Fikret Erdogan, et al.American Journal of Medical Genetics. Part A|June 18, 2009
Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosisAriana Kariminejad, Roxana Kariminejad, Andreas Tzschach, et al.Neuropediatrics|October 19, 2019
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular DisordersMaja von der Hagen, Lena-Luise Becker, Thomas F Wienker, et al.Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases|November 6, 2008
Identification of candidate genes for sporadic amyotrophic lateral sclerosis by array comparative genomic hybridizationSarah A Shoichet, Stefan Waibel, Sonja Endruhn, et al.Human Genetics|January 25, 2003
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeJennifer Winter, Tanja Lehmann, Vanessa Suckow, et al.American Journal of Medical Genetics. Part A|May 10, 2019
Homozygous variants in the gene SCAPER cause syndromic intellectual disabilityKimia Kahrizi, Mareike Huber, Danuta Galetzka, et al.American Journal of Medical Genetics. Part A|July 9, 2011
A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian familyMasoud Garshasbi, Kimia Kahrizi, Masoumeh Hosseini, et al.Pageof 13