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Helen V Firth

Showing results (51-60 of 116) with videos related to

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European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
Arxiv|July 10, 2023
Minimum information and guidelines for reporting a Multiplexed Assay of Variant EffectMelina Claussnitzer, Victoria N Parikh, Alex H Wagner, et al.
Genome Biology|April 19, 2024
Minimum information and guidelines for reporting a multiplexed assay of variant effectMelina Claussnitzer, Victoria N Parikh, Alex H Wagner, et al.
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa studyNadja Louw, Prince Makay, Phelelani T Mpangase, et al.
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
Pageof 12

Showing results (51-60 of 116) with videos related to

Sort By:
Pageof 12
European Journal of Medical Genetics|September 8, 2014
A syndromic form of Pierre Robin sequence is caused by 5q23 deletions encompassing FBN2 and PHAXMorad Ansari, Jacqueline K Rainger, Jennie E Murray, et al.
American Journal of Human Genetics|April 1, 2014
De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disabilityDetelina Grozeva, Keren Carss, Olivera Spasic-Boskovic, et al.
Nature Communications|June 1, 2019
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEPAnja Thormann, Mihail Halachev, William McLaren, et al.
Journal of Molecular Biology|March 28, 2026
Gene2Phenotype: a database of structured human monogenic diseases and pathomechanismsSarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, et al.
European Journal of Medical Genetics|October 16, 2012
Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotypeBénédicte Demeer, Joris Andrieux, Aline Receveur, et al.
Arxiv|July 10, 2023
Minimum information and guidelines for reporting a Multiplexed Assay of Variant EffectMelina Claussnitzer, Victoria N Parikh, Alex H Wagner, et al.
Genome Biology|April 19, 2024
Minimum information and guidelines for reporting a multiplexed assay of variant effectMelina Claussnitzer, Victoria N Parikh, Alex H Wagner, et al.
Human Mutation|June 1, 2010
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expressionMarkus Zweier, Anne Gregor, Christiane Zweier, et al.
Medrxiv : the Preprint Server for Health Sciences|February 12, 2026
Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders - the DDD-Africa studyNadja Louw, Prince Makay, Phelelani T Mpangase, et al.
Human Mutation|August 5, 2010
Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)Sue Povey, Aida I Al Aqeel, Anne Cambon-Thomsen, et al.
Pageof 12