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Helen V Firth

Showing results (31-40 of 116) with videos related to

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American Journal of Medical Genetics. Part A|May 21, 2013
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancyHannah J Durrington, Helen V Firth, Charlotte Patient, et al.
Wellcome Open Research|December 31, 2019
Genomic variant sharing: a position statementCaroline F Wright, James S Ware, Anneke M Lucassen, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
Genome Medicine|November 7, 2024
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)T Michael Yates, Morad Ansari, Louise Thompson, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Human Molecular Genetics|September 11, 2012
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersGanesh J Swaminathan, Eugene Bragin, Eleni A Chatzimichali, et al.
Genome Research|June 23, 2019
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutationsJoanna Kaplanis, Nadia Akawi, Giuseppe Gallone, et al.
Pageof 12

Showing results (31-40 of 116) with videos related to

Sort By:
Pageof 12
American Journal of Medical Genetics. Part A|May 21, 2013
A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancyHannah J Durrington, Helen V Firth, Charlotte Patient, et al.
Wellcome Open Research|December 31, 2019
Genomic variant sharing: a position statementCaroline F Wright, James S Ware, Anneke M Lucassen, et al.
Genetics in Medicine Open|December 13, 2024
Detection and characterization of copy-number variants from exome sequencing in the DDD studyPetr Danecek, Eugene J Gardner, Tomas W Fitzgerald, et al.
Human Molecular Genetics|January 8, 2016
Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domainRoman A Laskowski, Nidhi Tyagi, Diana Johnson, et al.
Scientific Reports|April 15, 2024
Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disordersEmilie M Wigdor, Kaitlin E Samocha, Ruth Y Eberhardt, et al.
Human Mutation|July 30, 2015
Facilitating collaboration in rare genetic disorders through effective matchmaking in DECIPHEREleni A Chatzimichali, Simon Brent, Benjamin Hutton, et al.
Genome Medicine|November 7, 2024
Curating genomic disease-gene relationships with Gene2Phenotype (G2P)T Michael Yates, Morad Ansari, Louise Thompson, et al.
Human Mutation|July 13, 2017
"Matching" consent to purpose: The example of the Matchmaker ExchangeStephanie O M Dyke, Bartha M Knoppers, Ada Hamosh, et al.
Human Molecular Genetics|September 11, 2012
DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disordersGanesh J Swaminathan, Eugene Bragin, Eleni A Chatzimichali, et al.
Genome Research|June 23, 2019
Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutationsJoanna Kaplanis, Nadia Akawi, Giuseppe Gallone, et al.
Pageof 12