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European Journal of Human Genetics : EJHG|September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
American Journal of Human Genetics|November 13, 2002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyFrédéric Laumonnier, Nathalie Ronce, Ben C J Hamel, et al.
Human Molecular Genetics|June 19, 2003
CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behaviorSuzanna G M Frints, Peter Marynen, Dieter Hartmann, et al.
American Journal of Human Genetics|August 5, 2005
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in malesHilde Van Esch, Marijke Bauters, Jaakko Ignatius, et al.
American Journal of Medical Genetics. Part A|April 14, 2009
Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qterMaria Kirchhoff, Anne-Marie Bisgaard, Radka Stoeva, et al.
Nature Genetics|August 21, 2007
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotypeHilde Brems, Magdalena Chmara, Mourad Sahbatou, et al.
American Journal of Human Genetics|December 17, 2009
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombinationJoke Vandewalle, Hilde Van Esch, Karen Govaerts, et al.
American Journal of Human Genetics|May 22, 2004
High prevalence of SLC6A8 deficiency in X-linked mental retardationEfraim H Rosenberg, Ligia S Almeida, Tjitske Kleefstra, et al.
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