Showing results (3631-3640 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|April 21, 2005
Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)Jinxiu Shi, Akane Shibayama, Qiang Liu, et al.
Human Mutation|September 8, 2005
Estimation of the frequency of occult mutations for an autosomal recessive disease in the presence of genetic heterogeneity: application to genetic hearing loss disordersWilliam J Kimberling
Human Mutation|March 19, 2005
Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and ItalyM Witsch-Baumgartner, P Clayton, N Clusellas, et al.
Human Mutation|March 19, 2005
Mutation analysis of the HOX paralogous 4-13 genes in children with acute lymphoid malignancies: identification of a novel germline mutation of HOXD4 leading to a partial loss-of-functionVirginie van Scherpenzeel Thim, Sophie Remacle, Jacques Picard, et al.
Human Mutation|March 19, 2005
Hellenic National Mutation database: a prototype database for mutations leading to inherited disorders in the Hellenic populationGeorge P Patrinos, Sjozef van Baal, Michael B Petersen, et al.
Human Mutation|April 16, 2005
Genomic rearrangements in the BRCA1 and BRCA2 genesSylvie Mazoyer
Human Mutation|April 16, 2005
KinMutBase: a registry of disease-causing mutations in protein kinase domainsCsaba Ortutay, Jouni Väliaho, Kaj Stenberg, et al.
Human Mutation|April 16, 2005
Characterization of iduronate-2-sulfatase gene-pseudogene recombinations in eight patients with Mucopolysaccharidosis type II revealed by a rapid PCR-based methodSusanna Lualdi, Stefano Regis, Maja Di Rocco, et al.
Human Mutation|November 4, 2004
A common nonsense mutation in the repetitive Kringle IV-2 domain of human apolipoprotein(a) results in a truncated protein and low plasma Lp(a)Walther Parson, Hans Georg Kraft, Harald Niederstätter, et al.
Human Mutation|November 4, 2004
Identification and characterization of novel mutations of the major Fanconi anemia gene FANCA in the Japanese populationHiroshi Yagasaki, Satoshi Hamanoue, Tsukasa Oda, et al.
Pageof 583