Showing results (181-190 of 191) with videos related to
Sort By:
Pageof 20
American Journal of Medical Genetics|August 18, 2000
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardationT Bienvenu, V des Portes, N McDonell, 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|May 15, 1998
Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardationP Billuart, T Bienvenu, N Ronce, et al.Journal of Medical Genetics|March 1, 1997
Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22V des Portes, J M Pinard, D Smadja, et al.European Journal of Medical Genetics|November 5, 2018
Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcomeB Deloison, P Sonigo, A E Millischer-Bellaiche, et al.Journal of Medical Genetics|June 1, 1997
Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D)A Carrié, F Piccolo, F Leturcq, et al.Journal of Dental Research|February 4, 2014
Dental caries and enamelin haplotypeC Chaussain, N Bouazza, B Gasse, et al.Journal of Medical Genetics|August 30, 2008
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutationsN Bahi-Buisson, K Poirier, N Boddaert, et al.Journal of Dental Research|March 26, 2013
Common SNPs of AmelogeninX (AMELX) and dental caries susceptibilityB Gasse, S Grabar, A G Lafont, 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.Pageof 20