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Shelagh Joss

Showing results (21-30 of 78) with videos related to

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Human Molecular Genetics|January 8, 2019
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowthChey Loveday, Katrina Tatton-Brown, Matthew Clarke, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.
Molecular Cytogenetics|January 22, 2015
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, et al.
The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Brain : a Journal of Neurology|October 24, 2025
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signallingPauline Antonie Ulmke, M Sadman Sakib, Dang Ton Nguyen, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
Pageof 8

Showing results (21-30 of 78) with videos related to

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Pageof 8
Human Molecular Genetics|January 8, 2019
Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowthChey Loveday, Katrina Tatton-Brown, Matthew Clarke, et al.
Clinical Dysmorphology|July 29, 2016
Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrumMark J Hamilton, Ruth Newbury-Ecob, Muriel Holder-Espinasse, et al.
European Journal of Human Genetics : EJHG|February 22, 2020
An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferaseVeronica M Pravata, Michaela Omelková, Marios P Stavridis, et al.
Molecular Cytogenetics|January 22, 2015
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disabilityAnna A Kashevarova, Lyudmila P Nazarenko, Soren Schultz-Pedersen, et al.
The Journal of Allergy and Clinical Immunology|November 13, 2015
A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiencyDavid A Parry, Tim D Holmes, Nikita Gamper, et al.
Molecular Genetics & Genomic Medicine|September 26, 2017
Protein structure and phenotypic analysis of pathogenic and population missense variants in <i>STXBP1</i>Mohnish Suri, Jochem M G Evers, Roman A Laskowski, et al.
Brain : a Journal of Neurology|October 24, 2025
EXOSC10 haploinsufficiency causes primary microcephaly by derepression of Sonic hedgehog signallingPauline Antonie Ulmke, M Sadman Sakib, Dang Ton Nguyen, et al.
American Journal of Human Genetics|October 15, 2019
Finding Diagnostically Useful Patterns in Quantitative Phenotypic DataStuart Aitken, Helen V Firth, Jeremy McRae, et al.
American Journal of Medical Genetics. Part A|August 31, 2018
A novel FBXO28 frameshift mutation in a child with developmental delay, dysmorphic features, and intractable epilepsy: A second gene that may contribute to the 1q41-q42 deletion phenotypeChris Balak, Newell Belnap, Keri Ramsey, et al.
Circulation. Cardiovascular Genetics|May 13, 2015
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac AnomaliesLaura Southgate, Maja Sukalo, Anastasios S V Karountzos, et al.
Pageof 8