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Cell|February 10, 1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusM Vikkula, E C Mariman, V C Lui, et al.Cytogenetics and Cell Genetics|November 4, 2000
Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocationsH G Nothwang, A Schröer, S van der Maarel, et al.Human Mutation|January 1, 1997
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) geneJ A van den Hurk, M Schwartz, H van Bokhoven, et al.Human Molecular Genetics|June 1, 1997
Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germlineJ A van den Hurk, W Hendriks, D J van de Pol, et al.Genomics|September 24, 1999
Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3)A H Németh, D Nolte, E Dunne, et al.Molecular Psychiatry|February 25, 2009
Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autismF Laumonnier, C Shoubridge, C Antar, et al.Nature Genetics|October 4, 2000
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardationK Kutsche, H Yntema, A Brandt, et al.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.American Journal of Medical Genetics|July 9, 1999
X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric regionH G Yntema, B van den Helm, N V Knoers, et al.Nature Genetics|August 11, 1998
Positional cloning of the gene for X-linked retinitis pigmentosa 2U Schwahn, S Lenzner, J Dong, et al.Pageof 21