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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.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.Journal of Hypertension|October 1, 2019
Fetotoxic risk of AT1 blockers exceeds that of angiotensin-converting enzyme inhibitors: an observational studyCorinna Weber-Schoendorfer, Angela Kayser, Tatjana Tissen-Diabaté, et al.Human Mutation|December 24, 2002
Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1Kathrin Huehne, Vladimir Benes, Christian Thiel, et al.American Journal of Human Genetics|April 15, 2008
Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyRikke S Møller, Sabine Kübart, Maria Hoeltzenbein, et al.European Journal of Human Genetics : EJHG|March 14, 2003
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante, Hans G Kehl, Frank Majewski, et al.American Journal of Human Genetics|May 9, 2003
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer, Jiong Tao, Andrew Donnelly, et al.American Journal of Human Genetics|November 25, 2003
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet, Kirsten Hoffmann, Corinna Menzel, et al.European Journal of Human Genetics : EJHG|December 3, 2009
Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencingWei Chen, Reinhard Ullmann, Claudia Langnick, et al.Human Genetics|October 27, 2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens, Aline Dubos, Fatima Abidi, et al.Pageof 4