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Louis Mandel

Showing results (151-160 of 221) with videos related to

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Human Molecular Genetics|January 26, 2006
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation programGretta Abou-Sleymane, Frédéric Chalmel, Dominique Helmlinger, et al.
Journal of Human Genetics|January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndromeElise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Biological Psychiatry|February 12, 2018
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum DisorderAngélique Quartier, Laure Chatrousse, Claire Redin, et al.
Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.
BMC Psychiatry|August 25, 2022
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDARomain Coutelle, Morgane Boedec, Karlijn Vermeulen, et al.
Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathyEdmar Zanoteli, Jocelyn Laporte, José C C Rocha, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|December 25, 2023
Ocular manifestations in Koolen-de Vries syndrome: an international studyDafna Shalev, David A Koolen, Bert B A de Vries, et al.
Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.
Pageof 23

Showing results (151-160 of 221) with videos related to

Sort By:
Pageof 23
Human Molecular Genetics|January 26, 2006
Polyglutamine expansion causes neurodegeneration by altering the neuronal differentiation programGretta Abou-Sleymane, Frédéric Chalmel, Dominique Helmlinger, et al.
Journal of Human Genetics|January 15, 2016
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndromeElise Schaefer, Corinne Stoetzel, Sophie Scheidecker, et al.
Biological Psychiatry|February 12, 2018
Genes and Pathways Regulated by Androgens in Human Neural Cells, Potential Candidates for the Male Excess in Autism Spectrum DisorderAngélique Quartier, Laure Chatrousse, Claire Redin, et al.
Journal of Neurology|February 19, 2009
SPG11 spastic paraplegia. A new cause of juvenile parkinsonismMathieu Anheim, Clotilde Lagier-Tourenne, Giovanni Stevanin, et al.
BMC Psychiatry|August 25, 2022
The impact of lockdown on young people with genetic neurodevelopmental disabilities: a study with the international participatory database GenIDARomain Coutelle, Morgane Boedec, Karlijn Vermeulen, et al.
Forensic Science International. Genetics|March 22, 2024
Recurrent familial case of early childhood sudden death: Complex post mortem genetic investigationsLila Krebs-Drouot, Audrey Schalk, Elise Schaefer, et al.
American Journal of Medical Genetics. Part A|February 4, 2005
Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathyEdmar Zanoteli, Jocelyn Laporte, José C C Rocha, et al.
Canadian Journal of Ophthalmology. Journal Canadien D'Ophtalmologie|December 25, 2023
Ocular manifestations in Koolen-de Vries syndrome: an international studyDafna Shalev, David A Koolen, Bert B A de Vries, et al.
Human Genetics|January 11, 2003
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotypeValérie Biancalana, Olivier Caron, Sabina Gallati, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.
Pageof 23