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Yvan Herenger

Showing results (1-10 of 15) with videos related to

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Journal of Clinical Neurology (Seoul, Korea)|July 7, 2023
A Novel <i>WARS2</i> Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to TrihexyphenidylVioleta Mihaylova, Yvan Herenger, Tobias Bethge, et al.
Neurology. Genetics|July 9, 2020
Novel truncating mutations of <i>MYO18B</i> causing congenital myopathy in a Swiss patientVioleta Mihaylova, Fabian Chablais, Yvan Herenger, et al.
Bioinformatics (Oxford, England)|April 19, 2018
AnnotSV: an integrated tool for structural variations annotationVéronique Geoffroy, Yvan Herenger, Arnaud Kress, et al.
Molecular Genetics and Metabolism Reports|August 7, 2019
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patientsYvan Herenger, Emmanuelle Maes, Laurent François, et al.
Journal of Innate Immunity|April 9, 2010
New p22-phox monoclonal antibodies: identification of a conformational probe for cytochrome b 558Yannick Campion, Algirdas J Jesaitis, Minh Vu Chuong Nguyen, et al.
European Journal of Medical Genetics|July 19, 2015
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutationsYvan Herenger, Corinne Stoetzel, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
Journal of Clinical Neurology (Seoul, Korea)|July 7, 2023
A Novel <i>WARS2</i> Mutation in a Swiss Family With Predominant Generalized Dystonia Responsive to TrihexyphenidylVioleta Mihaylova, Yvan Herenger, Tobias Bethge, et al.
Neurology. Genetics|July 9, 2020
Novel truncating mutations of <i>MYO18B</i> causing congenital myopathy in a Swiss patientVioleta Mihaylova, Fabian Chablais, Yvan Herenger, et al.
Bioinformatics (Oxford, England)|April 19, 2018
AnnotSV: an integrated tool for structural variations annotationVéronique Geoffroy, Yvan Herenger, Arnaud Kress, et al.
Molecular Genetics and Metabolism Reports|August 7, 2019
Determining factors of the cognitive outcome in early treated PKU: A study of 39 pediatric patientsYvan Herenger, Emmanuelle Maes, Laurent François, et al.
Journal of Innate Immunity|April 9, 2010
New p22-phox monoclonal antibodies: identification of a conformational probe for cytochrome b 558Yannick Campion, Algirdas J Jesaitis, Minh Vu Chuong Nguyen, et al.
European Journal of Medical Genetics|July 19, 2015
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutationsYvan Herenger, Corinne Stoetzel, Elise Schaefer, et al.
European Journal of Human Genetics : EJHG|October 31, 2013
20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognitionAmélie Piton, Hélène Poquet, Claire Redin, et al.
Human Genetics|July 6, 2018
Expanding the phenotype of the X-linked BCOR microphthalmia syndromesNicola Ragge, Bertrand Isidor, Pierre Bitoun, et al.
Frontiers in Cell and Developmental Biology|November 17, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variantsEstelle Colin, Yannis Duffourd, Emilie Tisserant, et al.
Journal of Medical Genetics|August 30, 2014
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencingClaire Redin, Bénédicte Gérard, Julia Lauer, et al.
Pageof 2