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Shelagh Joss

Showing results (41-50 of 78) with videos related to

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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
Brain : a Journal of Neurology|July 15, 2019
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohortJoseph D Symonds, Sameer M Zuberi, Kirsty Stewart, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
Pageof 8

Showing results (41-50 of 78) with videos related to

Sort By:
Pageof 8
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|September 4, 2019
The phenotype of Sotos syndrome in adulthood: A review of 44 individualsAlison Foster, Anna Zachariou, Chey Loveday, et al.
Human Mutation|July 18, 2025
Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange SyndromeMorad Ansari, Mihail Halachev, David Parry, et al.
Brain : a Journal of Neurology|July 15, 2019
Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohortJoseph D Symonds, Sameer M Zuberi, Kirsty Stewart, et al.
Genome Research|December 28, 2018
Pathogenicity and selective constraint on variation near splice sitesJenny Lord, Giuseppe Gallone, Patrick J Short, et al.
American Journal of Medical Genetics. Part A|November 12, 2013
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotypeKatrina Tatton-Brown, Anne Murray, Sandra Hanks, et al.
Human Molecular Genetics|January 31, 2015
Mosaic structural variation in children with developmental disordersDaniel A King, Wendy D Jones, Yanick J Crow, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2014
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesityNina De Rocker, Sarah Vergult, David Koolen, et al.
Human Mutation|January 12, 2016
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual DisabilityBertrand Isidor, Sébastien Küry, Jill A Rosenfeld, et al.
Epilepsia|September 30, 2024
POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxiaJoseph D Symonds, Kristen L Park, Cyril Mignot, et al.
European Journal of Human Genetics : EJHG|September 6, 2023
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous returnEmily A Huth, Xiaonan Zhao, Nichole Owen, et al.
Pageof 8