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Human Mutation|November 21, 2007
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutationsGeorg C Schwabe, Katrin Hoffmann, Niki Tomas Loges, et al.Human Mutation|September 18, 2009
Two-round coamplification at lower denaturation temperature-PCR (COLD-PCR)-based sanger sequencing identifies a novel spectrum of low-level mutations in lung adenocarcinomaJin Li, Coren A Milbury, Cheng Li, et al.Human Mutation|September 1, 2009
NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)Daniel F Schorderet, Pascal EscherHuman Mutation|September 1, 2009
Antisense oligonucleotide treatment for a pseudoexon-generating mutation in the NPC1 gene causing Niemann-Pick type C diseaseLaura Rodríguez-Pascau, Maria Josep Coll, Lluïsa Vilageliu, et al.Human Mutation|August 21, 2008
Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidismLucie Canaff, Xiang Zhou, Irina Mosesova, et al.Human Mutation|September 4, 2008
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defectsKaren E Christensen, Charles V Rohlicek, Gregor U Andelfinger, et al.Human Mutation|September 4, 2008
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlationsMelissa Yana Frédéric, Christine Monino, Christoph Marschall, et al.Human Mutation|July 18, 2008
Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese womenZhibin Hu, Jie Liang, Zhanwei Wang, et al.Human Mutation|October 28, 2008
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsSharon E Plon, Diana M Eccles, Douglas Easton, et al.Human Mutation|October 28, 2008
Mechanisms of pathogenicity in human MSH2 missense mutantsSaara Ollila, Denis Dermadi Bebek, Josef Jiricny, et al.Pageof 575