Showing results (1501-1510 of 5,818) with videos related to
Sort By:
Pageof 582
Human Mutation|September 10, 2015
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual DisabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.Human Mutation|September 10, 2015
Functional Analysis of BARD1 Missense Variants in Homology-Directed Repair of DNA Double Strand BreaksCindy Lee, Tapahsama Banerjee, Jessica Gillespie, et al.Human Mutation|December 24, 2015
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In VitroAna S A Cohen, Damian B Yap, M E Suzanne Lewis, et al.Human Mutation|December 24, 2015
Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese PopulationKazuya Shinmura, Hisami Kato, Masanori Goto, et al.Human Mutation|December 26, 2015
Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous SclerosisRosemary Ekong, Mark Nellist, Marianne Hoogeveen-Westerveld, et al.Human Mutation|February 10, 2016
Extensive Variation in the Mutation Rate Between and Within Human Genes Associated with Mendelian DiseaseThomas Smith, Gladys Ho, John Christodoulou, et al.Human Mutation|May 10, 2016
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related CraniosynostosisJacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, et al.Human Mutation|May 12, 2016
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUTPatrick Forny, Anne-Sophie Schnellmann, Celine Buerer, et al.Human Mutation|February 4, 2016
mutation3D: Cancer Gene Prediction Through Atomic Clustering of Coding Variants in the Structural ProteomeMichael J Meyer, Ryan Lapcevic, Alfonso E Romero, et al.Human Mutation|March 3, 2016
HGVS Recommendations for the Description of Sequence Variants: 2016 UpdateJohan T den Dunnen, Raymond Dalgleish, Donna R Maglott, et al.Pageof 582