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Human Mutation|July 4, 2012
Functional characterization of MLH1 missense variants identified in Lynch syndrome patientsSofie Dabros Andersen, Sascha Emilie Liberti, Anne Lützen, et al.Human Mutation|July 4, 2012
Identification of fifteen novel germline variants in the BRCA1 3'UTR reveals a variant in a breast cancer case that introduces a functional miR-103 target siteBrooke L Brewster, Francesca Rossiello, Juliet D French, et al.Human Mutation|June 21, 2012
Improving the rigor of mutation reports: biologic parentage and de novo mutationsLeslie BieseckerHuman Mutation|June 22, 2012
Absence of FKBP10 in recessive type XI osteogenesis imperfecta leads to diminished collagen cross-linking and reduced collagen deposition in extracellular matrixAileen M Barnes, Wayne A Cabral, MaryAnn Weis, et al.Human Mutation|July 11, 2012
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndromeMarc Forrest, Ria M Chapman, A Michelle Doyle, et al.Human Mutation|July 22, 1998
Analysis of recurrent germline mutations in the MEN1 gene encountered in apparently unrelated familiesS K Agarwal, L V Debelenko, M B Kester, et al.Human Mutation|July 22, 1998
Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNAO K Rødningen, S Tonstad, L Ose, et al.Human Mutation|September 23, 1998
Mutations of the human E-cadherin (CDH1) geneG Berx, K F Becker, H Höfler, et al.Human Mutation|February 2, 2010
The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuriaKaterina Homolova, Petra Zavadakova, Thomas Koed Doktor, et al.Human Mutation|October 13, 2018
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert PanelJessica L Mester, Rajarshi Ghosh, Tina Pesaran, et al.Pageof 578