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Bertrand Isidor

Showing results (111-120 of 365) with videos related to

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Annals of Neurology|January 26, 2018
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotypeMarie-Laure Vuillaume, Médéric Jeanne, Li Xue, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|December 23, 2015
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memorySandrine Passemard, Alain Verloes, Thierry Billette de Villemeur, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.
Communications Biology|July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelYeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndromeFranck Bourdeaut, Sandrine Ferrand, Laurence Brugières, et al.
Nature Genetics|February 12, 2008
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Geneviève, Valérie Proulle, Bertrand Isidor, et al.
European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset OsteoarthritisValentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
Pageof 37

Showing results (111-120 of 365) with videos related to

Sort By:
Pageof 37
Annals of Neurology|January 26, 2018
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotypeMarie-Laure Vuillaume, Médéric Jeanne, Li Xue, et al.
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
Cortex; a Journal Devoted to the Study of the Nervous System and Behavior|December 23, 2015
Abnormal spindle-like microcephaly-associated (ASPM) mutations strongly disrupt neocortical structure but spare the hippocampus and long-term memorySandrine Passemard, Alain Verloes, Thierry Billette de Villemeur, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
American Journal of Medical Genetics. Part A|July 9, 2025
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 DeletionsRussell Gear, Paul Kalitsis, Melissa Glass, et al.
Communications Biology|July 6, 2026
KCTD3 deficiency disrupts axon initial segment organization and neurite outgrowth in a neurodevelopmental disorder mouse modelYeonsoo Oh, Youngha Lee, Hoyong Jin, et al.
European Journal of Human Genetics : EJHG|November 11, 2011
ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndromeFranck Bourdeaut, Sandrine Ferrand, Laurence Brugières, et al.
Nature Genetics|February 12, 2008
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)David Geneviève, Valérie Proulle, Bertrand Isidor, et al.
European Journal of Medical Genetics|January 3, 2013
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial featuresElise Boudry-Labis, Bénédicte Demeer, Cédric Le Caignec, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|June 9, 2020
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset OsteoarthritisValentin Ruault, Kevin Yauy, Aurélie Fabre, et al.
Pageof 37