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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.Human Mutation|October 13, 2018
Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working GroupElizabeth M Webber, Jessica Ezzell Hunter, Leslie G Biesecker, et al.Human Mutation|October 13, 2018
Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation frameworkAndrew R Grant, Brandon J Cushman, Hélène Cavé, et al.Human Mutation|October 11, 2018
Global genetic insight contributed by consanguineous Pakistani families segregating hearing lossElodie M Richard, Regie Lyn P Santos-Cortez, Rabia Faridi, et al.Human Mutation|April 29, 2022
Partial loss-of-function variant in neuregulin 1 identified in family with heritable peripheral neuropathyDaniel E Lysko, Ana M Meireles, Chiara Folland, et al.Human Mutation|October 11, 2021
A family study implicates GBE1 in the etiology of autism spectrum disorderMiriam Fanjul-Fernández, Natasha J Brown, Peter Hickey, et al.Human Mutation|April 7, 2022
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general populationFanxuan Deng, D Gareth Evans, Miriam J SmithHuman Mutation|April 7, 2022
Effects of 14 F9 synonymous codon variants on hemophilia B expression: Alteration of splicing along with protein expressionHuayang Zhang, Changming Chen, Xi Wu, et al.Pageof 575