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Geert Mortier

Showing results (71-80 of 156) with videos related to

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American Journal of Medical Genetics. Part A|April 1, 2004
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicismLaurence Faivre, Martine Le Merrer, Serges Douvier, et al.
Bone|January 27, 2019
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literatureMeena Balasubramanian, Aline Verschueren, Simon Kleevens, et al.
Molecular Syndromology|June 16, 2023
Identification of a Novel Nonsense Variant in the <i>DLL3</i> Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani FamilyFeroz Khan, Abida Arshad, Asmat Ullah, et al.
Genes|January 21, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause SclerosteosisYentl Huybrechts, Eveline Boudin, Gretl Hendrickx, et al.
European Journal of Human Genetics : EJHG|March 19, 2021
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genesErik Fransen, Hanne Valgaeren, Katleen Janssens, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesAndreas Zankl, Luitgard Neumann, Jaako Ignatius, et al.
Molecular Genetics and Metabolism|September 22, 2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingFrederic R Acke, Fransiska Malfait, Olivier M Vanakker, et al.
Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.
Viruses|November 24, 2022
Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-αMarlies Boeren, Elise Van Breedam, Tamariche Buyle-Huybrecht, et al.
Journal of Molecular Endocrinology|January 24, 2015
Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1Timon Vandamme, Marc Peeters, Fadime Dogan, et al.
Pageof 16

Showing results (71-80 of 156) with videos related to

Sort By:
Pageof 16
American Journal of Medical Genetics. Part A|April 1, 2004
Recurrence of achondrogenesis type II within the same family: evidence for germline mosaicismLaurence Faivre, Martine Le Merrer, Serges Douvier, et al.
Bone|January 27, 2019
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literatureMeena Balasubramanian, Aline Verschueren, Simon Kleevens, et al.
Molecular Syndromology|June 16, 2023
Identification of a Novel Nonsense Variant in the <i>DLL3</i> Gene Underlying Spondylocostal Dysostosis in a Consanguineous Pakistani FamilyFeroz Khan, Abida Arshad, Asmat Ullah, et al.
Genes|January 21, 2022
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause SclerosteosisYentl Huybrechts, Eveline Boudin, Gretl Hendrickx, et al.
European Journal of Human Genetics : EJHG|March 19, 2021
Resequencing of candidate genes for Keratoconus reveals a role for Ehlers-Danlos Syndrome genesErik Fransen, Hanne Valgaeren, Katleen Janssens, et al.
American Journal of Medical Genetics. Part A|January 12, 2005
Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathiesAndreas Zankl, Luitgard Neumann, Jaako Ignatius, et al.
Molecular Genetics and Metabolism|September 22, 2014
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencingFrederic R Acke, Fransiska Malfait, Olivier M Vanakker, et al.
Human Mutation|August 31, 2006
Comprehensive NF1 screening on cultured Schwann cells from neurofibromasOphélia Maertens, Hilde Brems, Jo Vandesompele, et al.
Viruses|November 24, 2022
Activation of Interferon-Stimulated Genes following Varicella-Zoster Virus Infection in a Human iPSC-Derived Neuronal In Vitro Model Depends on Exogenous Interferon-αMarlies Boeren, Elise Van Breedam, Tamariche Buyle-Huybrecht, et al.
Journal of Molecular Endocrinology|January 24, 2015
Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1Timon Vandamme, Marc Peeters, Fadime Dogan, et al.
Pageof 16