Showing results (131-140 of 161) with videos related to
Sort By:
Pageof 17
Nature Genetics|March 13, 2002
FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardationIlaria Meloni, Maddalena Muscettola, Martine Raynaud, et al.Human Genetics|June 21, 2013
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disabilityJoke Vandewalle, Marijke Bauters, Hilde Van Esch, et al.American Journal of Human Genetics|October 24, 2003
Protein-truncating mutations in ASPM cause variable reduction in brain sizeJacquelyn Bond, Sheila Scott, Daniel J Hampshire, et al.Pathogenetics|February 26, 2010
A distinctive gene expression fingerprint in mentally retarded male patients reflects disease-causing defects in the histone demethylase KDM5CLars R Jensen, Heinz Bartenschlager, Sinitdhorn Rujirabanjerd, et al.American Journal of Medical Genetics. Part A|June 5, 2003
Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 geneSuzanna G M Frints, Lin Jun, Jean-Pierre Fryns, et al.American Journal of Human Genetics|February 14, 2004
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyFrédéric Laumonnier, Frédérique Bonnet-Brilhault, Marie Gomot, et al.American Journal of Human Genetics|May 13, 2003
Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGHJoris A Veltman, Yvonne Jonkers, Inge Nuijten, et al.American Journal of Human Genetics|May 14, 2004
Delineation of Cohen syndrome following a large-scale genotype-phenotype screenJuha Kolehmainen, Robert Wilkinson, Anna-Elina Lehesjoki, et al.Human Genetics|October 27, 2005
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardationOlivier Hagens, Aline Dubos, Fatima Abidi, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 2, 2013
A prospective study of the clinical utility of prenatal chromosomal microarray analysis in fetuses with ultrasound abnormalities and an exploration of a framework for reporting unclassified variants and risk factorsPaul Daniel Brady, Barbara Delle Chiaie, Gabrielle Christenhusz, et al.Pageof 17