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American Journal of Human Genetics|October 28, 2008
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein armNiki Tomas Loges, Heike Olbrich, Lale Fenske, et al.American Journal of Human Genetics|April 17, 2007
Genetic linkage to chromosome 22q12 for a heavy-smoking quantitative trait in two independent samplesScott F Saccone, Michele L Pergadia, Anu Loukola, et al.American Journal of Human Genetics|April 17, 2007
Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotypeReinhard Kalb, Kornelia Neveling, Holger Hoehn, et al.American Journal of Human Genetics|April 17, 2007
Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathwayClaire E Hart, Valerie Race, Younes Achouri, et al.American Journal of Human Genetics|April 17, 2007
Recurrent 10q22-q23 deletions: a genomic disorder on 10q associated with cognitive and behavioral abnormalitiesJorune Balciuniene, Ningping Feng, Kelly Iyadurai, et al.American Journal of Human Genetics|April 17, 2007
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunctionJeanne Amiel, Marlene Rio, Loic de Pontual, et al.American Journal of Human Genetics|August 1, 1991
Molecular heterogeneity of acute intermittent porphyria: identification of four additional mutations resulting in the CRIM-negative subtype of the diseaseM H Delfau, C Picat, F De Rooij, et al.American Journal of Human Genetics|October 23, 2008
Targeting Dyrk1A with AAVshRNA attenuates motor alterations in TgDyrk1A, a mouse model of Down syndromeJon Ortiz-Abalia, Ignasi Sahún, Xavier Altafaj, et al.American Journal of Human Genetics|October 23, 2008
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymesXin Yuan, Dawn Waterworth, John R B Perry, et al.American Journal of Human Genetics|September 12, 2007
Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardationJanine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, et al.Pageof 979