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Human Mutation|February 12, 2011
Patterns of human genetic variation inferred from comparative analysis of allelic mutations in blood group antigen genesSantosh Kumar Patnaik, Olga O BlumenfeldHuman Mutation|February 11, 2011
Induction of phenotype modifying cytokines by FERMT1 mutationsAnja Heinemann, Yinghong He, Elena Zimina, et al.Human Mutation|October 21, 2010
How to catch all those mutations--the report of the third Human Variome Project Meeting, UNESCO Paris, May 2010Maija R J Kohonen-Corish, Jumana Y Al-Aama, Arleen D Auerbach, et al.Human Mutation|October 21, 2010
Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tractStefania Gimelli, Gianluca Caridi, Silvana Beri, et al.Human Mutation|October 16, 2010
MET mutations in cancers of unknown primary origin (CUPs)Giulia M Stella, Silvia Benvenuti, Daniela Gramaglia, et al.Human Mutation|February 24, 2011
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definitionCatherine Deveault, Gail Billingsley, Jacque L Duncan, et al.Human Mutation|October 28, 2010
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia casesCéline Cluzeau, Smail Hadj-Rabia, Marguerite Jambou, et al.Human Mutation|October 30, 2010
Dissecting loss of heterozygosity (LOH) in neurofibromatosis type 1-associated neurofibromas: Importance of copy neutral LOHCarles Garcia-Linares, Juana Fernández-Rodríguez, Ernest Terribas, et al.Human Mutation|June 1, 2010
Two novel CRX mutant proteins causing autosomal dominant Leber congenital amaurosis interact differently with NRLLorenzo L Nichols, Ramakrishna P Alur, Elangovan Boobalan, et al.Pageof 576