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Emmanuelle Ranza

Showing results (1-10 of 52) with videos related to

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Revue Medicale Suisse|April 28, 2018
[Genetic aspects of movement disorders of adulthood]Judit Horvath, Emmanuelle Ranza
Klinische Monatsblatter Fur Augenheilkunde|April 23, 2024
Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A GeneNathalie Voide, Manon Macherel, Emmanuelle Ranza
Cerebellum (London, England)|November 27, 2015
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) MutationNicolas Nicastro, Emmanuelle Ranza, Stylianos E Antonarakis, et al.
Revue Medicale Suisse|October 4, 2019
[Genetics of hearing disorders in children]Ariane Paoloni-Giacobino, Emmanuelle Ranza, Marc Abramowicz, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 1, 2018
A triad of infantile spasms, nystagmus and a focal tonic seizureStephanie Garcia Tarodo, Thu Nguyen, Emmanuelle Ranza, et al.
Frontiers in Immunology|January 10, 2022
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCTFanny Luterbacher, Fanette Bernard, Frédéric Baleydier, et al.
Briefings in Bioinformatics|February 28, 2022
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applicationsMelivoia Rapti, Yassine Zouaghi, Jenny Meylan, et al.
Human Genomics|March 8, 2020
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseKarolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, et al.
Human Genomics|January 25, 2021
Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseKarolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, et al.
Journal of Pediatric Hematology/Oncology|October 19, 2018
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking LymphomaFrederic Baleydier, Emmanuelle Ranza, Michela Schäppi, et al.
Pageof 6

Showing results (1-10 of 52) with videos related to

Sort By:
Pageof 6
Revue Medicale Suisse|April 28, 2018
[Genetic aspects of movement disorders of adulthood]Judit Horvath, Emmanuelle Ranza
Klinische Monatsblatter Fur Augenheilkunde|April 23, 2024
Fleck Retina of Kandori Associated with a De Novo Mutation of a Heterozygous Variant in the CAMK2A GeneNathalie Voide, Manon Macherel, Emmanuelle Ranza
Cerebellum (London, England)|November 27, 2015
Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) MutationNicolas Nicastro, Emmanuelle Ranza, Stylianos E Antonarakis, et al.
Revue Medicale Suisse|October 4, 2019
[Genetics of hearing disorders in children]Ariane Paoloni-Giacobino, Emmanuelle Ranza, Marc Abramowicz, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|August 1, 2018
A triad of infantile spasms, nystagmus and a focal tonic seizureStephanie Garcia Tarodo, Thu Nguyen, Emmanuelle Ranza, et al.
Frontiers in Immunology|January 10, 2022
Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCTFanny Luterbacher, Fanette Bernard, Frédéric Baleydier, et al.
Briefings in Bioinformatics|February 28, 2022
CoverageMaster: comprehensive CNV detection and visualization from NGS short reads for genetic medicine applicationsMelivoia Rapti, Yassine Zouaghi, Jenny Meylan, et al.
Human Genomics|March 8, 2020
Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseKarolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, et al.
Human Genomics|January 25, 2021
Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenaseKarolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, et al.
Journal of Pediatric Hematology/Oncology|October 19, 2018
Activated Phosphoinositide 3 Kinase Delta Syndrome (APDS): A Primary Immunodeficiency Mimicking LymphomaFrederic Baleydier, Emmanuelle Ranza, Michela Schäppi, et al.
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