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Human Mutation|July 29, 2011
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment schemeSarah Berwouts, Michael A Morris, Emmanuelle Girodon, et al.Human Mutation|September 10, 2011
Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferaseGabriella Esposito, Francesca De Falco, Nadia Tinto, et al.Human Mutation|January 26, 2012
SEPT12 mutations cause male infertility with defective sperm annulusYung-Che Kuo, Ying-Hung Lin, Hau-Inh Chen, et al.Human Mutation|February 15, 2012
MouseFinder: Candidate disease genes from mouse phenotype dataChao-Kung Chen, Christopher J Mungall, Georgios V Gkoutos, et al.Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.Human Mutation|February 1, 2012
Assessing the enrichment performance in targeted resequencing experimentsPeter Frommolt, Ali T Abdallah, Janine Altmüller, et al.Human Mutation|February 1, 2012
Classification of mismatch repair gene missense variants with PON-MMRHeidi Ali, Ayodeji Olatubosun, Mauno VihinenHuman Mutation|January 7, 2012
Rapid, comprehensive analysis of the dystrophin transcript by a custom micro-fluidic exome arrayMatteo Bovolenta, Chiara Scotton, Maria Sofia Falzarano, et al.Human Mutation|March 30, 2012
Next-generation sequencing demands next-generation phenotypingRaoul C M Hennekam, Leslie G BieseckerHuman Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.Pageof 574