Showing results (3241-3250 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|September 25, 2009
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlationSoumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker, et al.
Human Mutation|July 30, 2009
Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD)Hiroko Morisaki, Koichi Akutsu, Hitoshi Ogino, et al.
Human Mutation|August 25, 2009
Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidusErik-Jan Kamsteeg, Monique Stoffels, Grazia Tamma, et al.
Human Mutation|September 18, 2009
Defining the pathogenic role of telomerase mutations in myelodysplastic syndrome and acute myeloid leukemiaMichael Kirwan, Tom Vulliamy, Anna Marrone, et al.
Human Mutation|July 9, 2009
The SCN1A variant database: a novel research and diagnostic toolLieve R F Claes, Liesbet Deprez, Arvid Suls, et al.
Human Mutation|July 17, 2009
Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophyMartina Cesani, Alessia Capotondo, Tiziana Plati, et al.
Human Mutation|July 21, 2009
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytesIstván Magyar, Dvora Colman, Eliane Arnold, et al.
Human Mutation|July 3, 2009
Measurement of admixture proportions and description of admixture structure in different U.S. populationsIndrani Halder, Bao-Zhu Yang, Henry R Kranzler, et al.
Human Mutation|March 18, 2011
Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohortIsabelle Audo, Marie-Elise Lancelot, Saddek Mohand-Saïd, et al.
Human Mutation|March 12, 2011
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundaryPhillip J Whiley, Lucia Guidugli, Logan C Walker, et al.
Pageof 583