Showing results (3791-3800 of 5,826) with videos related to

Sort By:
Pageof 583
Human Mutation|July 17, 2013
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12Guida Landouré, Peng-Peng Zhu, Charles M Lourenço, et al.
Human Mutation|July 24, 2013
Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosisScot C Leary, Hana Antonicka, Florin Sasarman, et al.
Human Mutation|July 30, 2013
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelinesLogan C Walker, Phillip J Whiley, Claude Houdayer, et al.
Human Mutation|September 10, 2013
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activityFederica Invernizzi, Marco Tigano, Cristina Dallabona, et al.
Human Mutation|August 29, 2013
Functional analysis of a large set of BRCA2 exon 7 variants highlights the predictive value of hexamer scores in detecting alterations of exonic splicing regulatory elementsDaniela Di Giacomo, Pascaline Gaildrat, Anna Abuli, et al.
Human Mutation|September 17, 2013
Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndromeLinda Mannini, Francesco Cucco, Valentina Quarantotti, et al.
Human Mutation|June 21, 2013
Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnosticsTessel Rigter, Lidewij Henneman, Ulf Kristoffersson, et al.
Human Mutation|March 7, 2013
EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequencesPaola Monti, Debora Russo, Renata Bocciardi, et al.
Human Mutation|March 7, 2013
GEnomes Management Application (GEM.app): a new software tool for large-scale collaborative genome analysisMichael A Gonzalez, Rafael F Acosta Lebrigio, Derek Van Booven, et al.
Human Mutation|March 7, 2013
Towards a Universal Clinical Genomics Database: the 2012 International Standards for Cytogenomic Arrays Consortium MeetingErin Rooney Riggs, Karen E Wain, Darlene Riethmaier, et al.
Pageof 583