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American Journal of Human Genetics|February 11, 1999
Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27H van Bokhoven, M Jung, A P Smits, et al.Human Molecular Genetics|July 21, 1998
Non-specific X-linked semidominant mental retardation by mutations in a Rab GDP-dissociation inhibitorT Bienvenu, V des Portes, A Saint Martin, et al.Nature Genetics|November 14, 1997
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22N A Quaderi, S Schweiger, K Gaudenz, et al.Genomics|January 25, 2000
A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardationH G Yntema, B van den Helm, J Kissing, et al.Human Molecular Genetics|April 20, 2001
MECP2 is highly mutated in X-linked mental retardationP Couvert, T Bienvenu, C Aquaviva, et al.Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.Nature Genetics|September 2, 1999
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardationA Carrié, L Jun, T Bienvenu, et al.Human Molecular Genetics|September 1, 1996
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4Y J de Kok, E R Vossenaar, C W Cremers, et al.Nature Genetics|February 2, 2000
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocationR Zemni, T Bienvenu, M C Vinet, et al.Molecular Psychiatry|March 24, 2010
Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigreeK-P Lesch, S Selch, T J Renner, et al.Pageof 21