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American Journal of Human Genetics|May 13, 2003
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasiaAlexandre Irrthum, Koenraad Devriendt, David Chitayat, et al.
European Heart Journal|March 27, 2007
Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patientsBernard Thienpont, Luc Mertens, Thomy de Ravel, et al.
Human Molecular Genetics|May 13, 2005
Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosisHilde Van Esch, Karen Hollanders, Liesbeth Badisco, et al.
The Annals of Otology, Rhinology, and Laryngology|July 28, 2004
Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutationsChristel Stinckens, Hannie Kremer, Erwin van Wijk, et al.
Genome Biology|May 28, 2013
Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profilesNicole Y P Souren, Pavlo Lutsik, Gilles Gasparoni, et al.
Prenatal Diagnosis|December 23, 2004
Post-zygotic origin of isochromosome 12pThomy J L de Ravel, Kathelijn Keymolen, Elvire van Assche, et al.
European Journal of Human Genetics : EJHG|December 21, 2006
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardationWei Chen, Lars R Jensen, Jozef Gecz, et al.
American Journal of Medical Genetics. Part A|April 17, 2014
Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defectsMarijke Bauters, Suzanna G Frints, Hilde Van Esch, et al.
Human Mutation|March 17, 2006
Novel JARID1C/SMCX mutations in patients with X-linked mental retardationAndreas Tzschach, Steffen Lenzner, Bettina Moser, et al.
European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.
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