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Denise Williams

Showing results (81-90 of 95) with videos related to

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Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Cancers|September 29, 2020
Prognostic Factors in Childhood Anaplastic Large Cell Lymphoma: Long Term Results of the International ALCL99 TrialLara Mussolin, Marié-Cecilé Le Deley, Elisa Carraro, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
The Lancet. Haematology|March 1, 2023
Improving outcomes of childhood and young adult non-Hodgkin lymphoma: 25 years of research and collaboration within the framework of the European Intergroup for Childhood Non-Hodgkin LymphomaAuke Beishuizen, Karin Mellgren, Mara Andrés, et al.
Pageof 10

Showing results (81-90 of 95) with videos related to

Sort By:
Pageof 10
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
Frontiers in Genetics|June 21, 2024
Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiencesMichelle Peter, Rhiannon Mellis, Hannah McInnes-Dean, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 17, 2024
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotypeCamilla Sarli, Liselot van der Laan, Jack Reilly, et al.
American Journal of Human Genetics|April 9, 2011
Loss-of-function mutations in RAB18 cause Warburg micro syndromeDanai Bem, Shin-Ichiro Yoshimura, Ricardo Nunes-Bastos, et al.
Journal of Medical Genetics|March 19, 2011
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasiaSlimane Allali, Carine Le Goff, Isabelle Pressac-Diebold, et al.
Cancers|September 29, 2020
Prognostic Factors in Childhood Anaplastic Large Cell Lymphoma: Long Term Results of the International ALCL99 TrialLara Mussolin, Marié-Cecilé Le Deley, Elisa Carraro, et al.
Human Mutation|April 23, 2017
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemiaDewi Astuti, Ataf Sabir, Piers Fulton, et al.
Brain : a Journal of Neurology|November 2, 2013
SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndromeMichael Krieger, Andreas Roos, Claudia Stendel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 9, 2019
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interactionKathleen A Williamson, H Nikki Hall, Liusaidh J Owen, et al.
The Lancet. Haematology|March 1, 2023
Improving outcomes of childhood and young adult non-Hodgkin lymphoma: 25 years of research and collaboration within the framework of the European Intergroup for Childhood Non-Hodgkin LymphomaAuke Beishuizen, Karin Mellgren, Mara Andrés, et al.
Pageof 10