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Human Mutation|April 24, 2009
Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter studyDominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, et al.Human Mutation|July 24, 2009
Searching genetic risk factors for schizophrenia and bipolar disorder: learn from the past and back to the futureMaaike Alaerts, Jurgen Del-FaveroHuman Mutation|August 27, 2009
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri, Robert J Osborne, Martin Farrall, et al.Human Mutation|September 1, 2009
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?Joanna L Elson, Helen Swalwell, Emma L Blakely, et al.Human Mutation|July 22, 2009
Molecular pathology of the fibroblast growth factor familyPavel Krejci, Jirina Prochazkova, Vitezslav Bryja, et al.Human Mutation|July 22, 2009
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A)Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, et al.Human Mutation|July 22, 2009
Single nucleotide variation detection by ligation of universal probes on a 3D poyacrylamide gel DNA microarrayJing Tang, Yanqiang Li, Zhiqiang Pan, et al.Human Mutation|October 1, 2009
Structural aspects of therapeutic enzymes to treat metabolic disordersTse Siang Kang, Raymond C StevensHuman Mutation|September 25, 2009
A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiencyAnne Parle-McDermott, Faith Pangilinan, Kirsty K O'Brien, et al.Human Mutation|October 8, 2009
Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signalingMaria Valencia, Pablo Lapunzina, Derek Lim, et al.Pageof 574