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Human mutation

Showing results (1321-1330 of 5,734) with videos related to

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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 Smith
Human 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.
Human Mutation|April 22, 2022
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defectsLaura Mary, Delphine Leclerc, David Gilot, et al.
Human Mutation|April 22, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndromeEmily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.
Human Mutation|October 18, 2012
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database updateKristiana Gordon, Sarah L Spiden, Fiona C Connell, et al.
Pageof 574

Showing results (1321-1330 of 5,734) with videos related to

Sort By:
Pageof 574
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 Smith
Human 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.
Human Mutation|April 22, 2022
The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defectsLaura Mary, Delphine Leclerc, David Gilot, et al.
Human Mutation|April 22, 2022
Predictive functional assay-based classification of PMS2 variants in Lynch syndromeEmily Rayner, Yvonne Tiersma, Cristina Fortuno, et al.
Human Mutation|October 18, 2012
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database updateKristiana Gordon, Sarah L Spiden, Fiona C Connell, et al.
Pageof 574