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European Journal of Medical Genetics|September 20, 2015
Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataractsLaure Raymond, Bruno Francou, François Petit, et al.
Human Reproduction (Oxford, England)|March 15, 2012
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system developmentJacques Young, Corinne Metay, Jerome Bouligand, et al.
Plos Genetics|October 16, 2010
Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifierAlexandre Hinzpeter, Abdel Aissat, Elvira Sondo, et al.
Human Molecular Genetics|February 22, 2013
KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndromeLoïc Drévillon, André Megarbane, Bénédicte Demeer, et al.
Human Molecular Genetics|March 8, 2013
ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndromeJamal Ghoumid, Loïc Drevillon, Seyedeh Maryam Alavi-Naini, et al.
European Journal of Medical Genetics|September 30, 2008
Deletion 2q36.2q36.3 with multiple renal cysts and severe mental retardationMartine Doco-Fenzy, Emilie Landais, Joris Andrieux, et al.
American Journal of Medical Genetics. Part A|June 5, 2003
Further delineation of the phenotype associated with heterozygous mutations in ZFHX1BMeredith Wilson, David Mowat, Florence Dastot-Le Moal, et al.
Human Molecular Genetics|April 10, 2014
Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patientsIsabelle Callebaut, Rozenn Joubrel, Serge Pissard, et al.
American Journal of Human Genetics|November 14, 2007
Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4Nadege Bondurand, Florence Dastot-Le Moal, Laure Stanchina, et al.
European Journal of Human Genetics : EJHG|January 20, 2012
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromesSandy Léger, Xavier Balguerie, Alice Goldenberg, et al.
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