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Laurence Perrin

Showing results (31-40 of 81) with videos related to

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Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2014
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patientsSéverine Marcos, Julie Sarfati, Chrystel Leroy, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
BMC Medical Genomics|July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndromeEric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
The Journal of Allergy and Clinical Immunology|June 16, 2018
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defectsAurélie Berland, Jérémie Rosain, Sophie Kaltenbach, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Pageof 9

Showing results (31-40 of 81) with videos related to

Sort By:
Pageof 9
Clinical Genetics|December 28, 2020
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohortNicolas Rive Le Gouard, Adeline Jacquinet, Lyse Ruaud, et al.
European Journal of Human Genetics : EJHG|October 17, 2013
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genesMartine Doco-Fenzy, Camille Leroy, Anouck Schneider, et al.
The Journal of Clinical Endocrinology and Metabolism|August 1, 2014
The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patientsSéverine Marcos, Julie Sarfati, Chrystel Leroy, et al.
European Journal of Human Genetics : EJHG|April 27, 2018
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosisLaura Mary, Amélie Piton, Elise Schaefer, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 27, 2024
Neurological and psychiatric phenotype of a multicenter cohort of patients with SETD5-related neurodevelopmental disorderAlessandro De Falco, Angela De Dominicis, Marina Trivisano, et al.
BMC Medical Genomics|July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndromeEric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.
The Journal of Allergy and Clinical Immunology|June 16, 2018
PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defectsAurélie Berland, Jérémie Rosain, Sophie Kaltenbach, et al.
Clinical Genetics|June 6, 2026
Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 PatientsCamille Bergès, Clément Sauvestre, Sophie Naudion, et al.
European Journal of Human Genetics : EJHG|January 14, 2016
Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemiaHélène Cavé, Aurélie Caye, Nehla Ghedira, et al.
American Journal of Human Genetics|November 28, 2016
Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic AtrophyMirna Assoum, Christophe Philippe, Bertrand Isidor, et al.
Pageof 9