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Wendy D Jones

Showing results (1-10 of 25) with videos related to

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Journal of Medical Case Reports|December 21, 2010
Intracranial hypotension secondary to spinal arachnoid cyst rupture presenting with acute severe headache: a case reportWendy D Jones, Makarand Kulkarni, K Ravishankar, et al.
Orphanet Journal of Rare Diseases|April 2, 2025
Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 casesNicola Yuill, Camilla Elphick, Jess Marshall, et al.
Epilepsia Open|July 16, 2021
Late diagnoses of Dravet syndrome: How many individuals are we missing?Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, et al.
Hormone Research in Paediatrics|October 24, 2024
Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation SyndromeNeha Malhotra, Thia Hanania, Daphne Yau, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
The Journal of Clinical Endocrinology and Metabolism|September 11, 2019
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and ArthrogryposisLouise C Gregory, Pratik Shah, Juliane R F Sanner, et al.
Genome Medicine|November 13, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplicationsYang Pei, Eduardo Calpena, Jill M Brown, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Frontiers in Immunology|December 20, 2023
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibitionAlice Burleigh, Elena Moraitis, Eman Al Masroori, et al.
Pageof 3

Showing results (1-10 of 25) with videos related to

Sort By:
Pageof 3
Journal of Medical Case Reports|December 21, 2010
Intracranial hypotension secondary to spinal arachnoid cyst rupture presenting with acute severe headache: a case reportWendy D Jones, Makarand Kulkarni, K Ravishankar, et al.
Orphanet Journal of Rare Diseases|April 2, 2025
Behavioral profiles and social relationships in Wiedemann-Steiner syndrome: parent reports on 25 casesNicola Yuill, Camilla Elphick, Jess Marshall, et al.
Epilepsia Open|July 16, 2021
Late diagnoses of Dravet syndrome: How many individuals are we missing?Katri Silvennoinen, Clinda Puvirajasinghe, Kirsty Hudgell, et al.
Hormone Research in Paediatrics|October 24, 2024
Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation SyndromeNeha Malhotra, Thia Hanania, Daphne Yau, et al.
American Journal of Human Genetics|July 17, 2012
De novo mutations in MLL cause Wiedemann-Steiner syndromeWendy D Jones, Dimitra Dafou, Meriel McEntagart, et al.
The Journal of Clinical Endocrinology and Metabolism|September 11, 2019
Mutations in MAGEL2 and L1CAM Are Associated With Congenital Hypopituitarism and ArthrogryposisLouise C Gregory, Pratik Shah, Juliane R F Sanner, et al.
Genome Medicine|November 13, 2025
Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplicationsYang Pei, Eduardo Calpena, Jill M Brown, et al.
Journal of Medical Genetics|July 28, 2018
Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill childrenLamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Frontiers in Immunology|December 20, 2023
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibitionAlice Burleigh, Elena Moraitis, Eman Al Masroori, et al.
Pageof 3