Showing results (1351-1360 of 5,776) with videos related to
Sort By:
Pageof 578
Human Mutation|November 6, 2012
Molecular analysis of the rare in(Lu) blood type: toward decoding the phenotypic outcome of haploinsufficiency for the transcription factor KLF1Virginie Helias, Carole Saison, Thierry Peyrard, et al.Human Mutation|January 29, 2014
Clinically relevant variants - identifying, collecting, interpreting, and disseminating: the 2013 annual scientific meeting of the Human Genome Variation SocietyChristine M Stanley, Shamil R Sunyaev, Marc S Greenblatt, et al.Human Mutation|May 20, 2014
Genetic and epigenetic characteristics of FSHD-associated 4q and 10q D4Z4 that are distinct from non-4q/10q D4Z4 homologsWeihua Zeng, Yen-Yun Chen, Daniel A Newkirk, et al.Human Mutation|October 23, 2012
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneityArianna Tucci, Eleanna Kara, Anna Schossig, et al.Human Mutation|January 14, 2014
Insights into wild-type and mutant p53 functions provided by genetically engineered miceLawrence A DonehowerHuman Mutation|January 14, 2014
Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT geneSaadet Mercimek-Mahmutoglu, Joseph Ndika, Warsha Kanhai, et al.Human Mutation|June 17, 2014
Unraveling cellular phenotypes of novel TorsinA/TOR1A mutationsFranca Vulinovic, Katja Lohmann, Aleksandar Rakovic, et al.Human Mutation|July 4, 2014
GALT protein database: querying structural and functional features of GALT enzymeAntonio d'Acierno, Angelo Facchiano, Anna MarabottiHuman Mutation|September 12, 2012
Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAPCarine Le Goff, Clémentine Mahaut, Armand Bottani, et al.Human Mutation|August 7, 2012
Mutations of ANK3 identified by exome sequencing are associated with autism susceptibilityCheng Bi, Jinyu Wu, Tao Jiang, et al.Pageof 578