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Human Mutation|August 10, 2005
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotypeElke M Botzenhart, Andrew Green, Helena Ilyina, et al.Human Mutation|August 16, 2005
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophiesRachele Cagliani, Francesca Magri, Antonio Toscano, et al.Human Mutation|August 20, 2005
Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraintSharon A Savage, Brian J Stewart, Andrew Eckert, et al.Human Mutation|August 20, 2005
Rare missense variants in ATP1A2 in families with clustering of common forms of migraineUnda Todt, Martin Dichgans, Karin Jurkat-Rott, et al.Human Mutation|August 23, 2005
Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutationTanja Ilmarinen, Petra Eskelin, Maria Halonen, et al.Human Mutation|August 23, 2005
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutationsNanna D Rendtorff, Bolette Bjerregaard, Morten Frödin, et al.Human Mutation|September 16, 2005
Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibilityNicole Monnier, Geneviève Kozak-Ribbens, Renée Krivosic-Horber, et al.Human Mutation|July 13, 2005
Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B diseaseAndrea Dardis, Stefania Zampieri, Mirella Filocamo, et al.Human Mutation|February 14, 2007
Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutationsMarguerite Neerman-Arbez, Philippe de MoerloosePageof 577