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Human Mutation|September 18, 2009
Exon skipping-mediated dystrophin reading frame restoration for small mutationsPietro Spitali, Paola Rimessi, Marina Fabris, et al.Human Mutation|September 18, 2009
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)Eva Richard, Ana Jorge-Finnigan, Judit Garcia-Villoria, et al.Human Mutation|September 18, 2009
ssSNPTarget: genome-wide splice-site Single Nucleotide Polymorphism databaseJin Ok Yang, Woo-Yeon Kim, Jong BhakHuman Mutation|September 11, 2008
TCF4 deletions in Pitt-Hopkins SyndromeIrina Giurgea, Chantal Missirian, Pierre Cacciagli, et al.Human Mutation|September 11, 2008
A new database for ribosomal protein genes which are mutated in Diamond-Blackfan AnemiaIlenia Boria, Paola Quarello, Federica Avondo, et al.Human Mutation|September 11, 2008
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt, Preeti Bakrania, David J Bunyan, et al.Human Mutation|August 30, 2008
Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamilyElena G Bochukova, Tony Roscioli, Dale J Hedges, et al.Human Mutation|May 4, 2010
Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)Lihadh Al-Gazali, Bassam R AliHuman Mutation|May 4, 2010
Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosisRobert C Bauer, Ayanna O Laney, Rosemarie Smith, et al.Human Mutation|December 17, 2008
An inherited mitochondrial DNA disruptive mutation shifts to homoplasmy in oncocytic tumor cellsGiuseppe Gasparre, Luisa Iommarini, Anna Maria Porcelli, et al.Pageof 574