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Human Mutation|June 9, 2012
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patientsAngela Abicht, Marina Dusl, Constanze Gallenmüller, et al.Human Mutation|November 20, 2012
Functional characterization of novel mutations affecting survivin (BIRC5)-mediated therapy resistance in head and neck cancer patientsShirley K Knauer, Britta Unruhe, Sarah Karczewski, et al.Human Mutation|November 22, 2012
Guidelines for reporting and using prediction tools for genetic variation analysisMauno VihinenHuman Mutation|May 4, 2012
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosisChristine P Diggle, David A Parry, Clare V Logan, et al.Human Mutation|May 11, 2012
Tandem repeat sequence variation as causative cis-eQTLs for protein-coding gene expression variation: the case of CSTBChristelle Borel, Eugenia Migliavacca, Audrey Letourneau, et al.Human Mutation|August 16, 2013
Telomere phenotypes in females with heterozygous mutations in the dyskeratosis congenita 1 (DKC1) geneJonathan K Alder, Erin M Parry, Srinivasan Yegnasubramanian, et al.Human Mutation|March 12, 2011
WAVe: web analysis of the variomePedro Lopes, Raymond Dalgleish, José Luís OliveiraHuman Mutation|March 12, 2011
A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicismJuana Fernández-Rodríguez, Joan Castellsagué, Llúcia Benito, et al.Human Mutation|March 18, 2011
SNCA locus duplication carriers: from genetics to Parkinson disease phenotypesEugénie Mutez, Frédéric Leprêtre, Emilie Le Rhun, et al.Human Mutation|March 18, 2011
A novel nonsense mutation in the APTX gene associated with delayed DNA single-strand break removal fails to enhance sensitivity to different genotoxic agentsClaudia Crimella, Orazio Cantoni, Andrea Guidarelli, et al.Pageof 574