Showing results (4171-4180 of 5,826) with videos related to
Sort By:
Pageof 583
Human Mutation|October 23, 2009
Allelic imbalance (AI) identifies novel tissue-specific cis-regulatory variation for human UGT2B15Chang Sun, Catherine Southard, David B Witonsky, et al.Human Mutation|October 23, 2009
ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpuraLuca A Lotta, Isabella Garagiola, Roberta Palla, et al.Human Mutation|October 23, 2009
A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumbDagmar Wieczorek, Barbara Pawlik, Yun Li, et al.Human Mutation|October 29, 2009
Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria)B Pérez, A Rincón, A Jorge-Finnigan, et al.Human Mutation|October 29, 2009
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidaseJohn J Flanagan, Barbara Rossi, Katherine Tang, et al.Human Mutation|December 3, 2009
Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skippingNicolas Wein, Aurélie Avril, Marc Bartoli, et al.Human Mutation|December 3, 2009
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patientsKarla P Figueroa, Natali A Minassian, Giovanni Stevanin, et al.Human Mutation|December 3, 2009
The most frequent DCLRE1C (ARTEMIS) mutations are based on homologous recombination eventsUlrich Pannicke, Manfred Hönig, Ilka Schulze, et al.Human Mutation|December 3, 2009
Diagnostic challenges due to phenocopies: lessons from Multiple Endocrine Neoplasia type1 (MEN1)Jeremy J O Turner, Paul T Christie, Simon H S Pearce, et al.Human Mutation|April 11, 2018
Inferring the effect of genomic variation in the new era of genomicsSamya Chakravorty, Madhuri HegdePageof 583