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Isabel Filges

Showing results (41-50 of 62) with videos related to

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Plos One|December 24, 2010
Microarray-based maps of copy-number variant regions in European and sub-Saharan populationsChristian Vogler, Leo Gschwind, Benno Röthlisberger, et al.
Molecular Genetics and Metabolism Reports|February 3, 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)Nina Lenherr, John Christodoulou, John Duley, et al.
American Journal of Medical Genetics. Part A|April 3, 2025
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex CongenitaShahrzad Nematollahi, Reggie C Hamdy, Harold van Bosse, et al.
Developmental Medicine and Child Neurology|April 9, 2024
Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre internationalShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Developmental Medicine and Child Neurology|April 6, 2024
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacionalShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.
Developmental Medicine and Child Neurology|March 16, 2024
Common data elements for arthrogryposis multiplex congenita: An international frameworkShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|June 15, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 26, 2026
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and EducationShahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, et al.
Pageof 7

Showing results (41-50 of 62) with videos related to

Sort By:
Pageof 7
Plos One|December 24, 2010
Microarray-based maps of copy-number variant regions in European and sub-Saharan populationsChristian Vogler, Leo Gschwind, Benno Röthlisberger, et al.
Molecular Genetics and Metabolism Reports|February 3, 2021
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)Nina Lenherr, John Christodoulou, John Duley, et al.
American Journal of Medical Genetics. Part A|April 3, 2025
Human Phenotype Ontology Annotations for Rare Congenital Conditions: Application to Arthrogryposis Multiplex CongenitaShahrzad Nematollahi, Reggie C Hamdy, Harold van Bosse, et al.
Developmental Medicine and Child Neurology|April 9, 2024
Éléments de données communs pour l'arthrogrypose multiple congénitale: Un cadre internationalShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Developmental Medicine and Child Neurology|April 6, 2024
Elementos de datos comunes para la artrogriposis múltiple congénita: Un marco internacionalShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Journal of Personalized Medicine|June 27, 2024
<i>SwissGenVar</i>: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in SwitzerlandDennis Kraemer, Dillenn Terumalai, Maria Livia Famiglietti, et al.
Developmental Medicine and Child Neurology|March 16, 2024
Common data elements for arthrogryposis multiplex congenita: An international frameworkShahrzad Nematollahi, Klaus Dieterich, Isabel Filges, et al.
Human Mutation|January 29, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
Human Mutation|June 15, 2016
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPFIsabel Filges, Elisabeth Bruder, Kristin Brandal, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|June 26, 2026
The International Consortium for Arthrogryposis: A Collaborative Framework for Early Detection, Care, Research, and EducationShahrzad Nematollahi, Noa Bouzaglo, Victoria Castillo Sanchez, et al.
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