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Sophie Thomas

Showing results (41-50 of 83) with videos related to

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International Journal of Molecular Sciences|March 11, 2023
Assessment of Lab4P Probiotic Effects on Cognition in 3xTg-AD Alzheimer's Disease Model Mice and the SH-SY5Y Neuronal Cell LineThomas S Webberley, Ryan J Bevan, Joshua Kerry-Smith, et al.
Acta Neuropathologica Communications|February 21, 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medullaAude Tessier, Nathalie Roux, Lucile Boutaud, et al.
Journal of Visualized Experiments : Jove|April 7, 2022
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical DevelopmentLucile Boutaud, Marie Michael, Céline Banal, et al.
Neurobiology of Disease|December 3, 2013
Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndromeFrançois Mouton-Liger, Ignasi Sahún, Thibault Collin, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.
Plos Genetics|December 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoidsJustine Guguin, Ting-Yu Chen, Silvestre Cuinat, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 15, 2015
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformationCaroline Alby, Valérie Malan, Lucile Boutaud, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
Pageof 9

Showing results (41-50 of 83) with videos related to

Sort By:
Pageof 9
International Journal of Molecular Sciences|March 11, 2023
Assessment of Lab4P Probiotic Effects on Cognition in 3xTg-AD Alzheimer's Disease Model Mice and the SH-SY5Y Neuronal Cell LineThomas S Webberley, Ryan J Bevan, Joshua Kerry-Smith, et al.
Acta Neuropathologica Communications|February 21, 2023
Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medullaAude Tessier, Nathalie Roux, Lucile Boutaud, et al.
Journal of Visualized Experiments : Jove|April 7, 2022
2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical DevelopmentLucile Boutaud, Marie Michael, Céline Banal, et al.
Neurobiology of Disease|December 3, 2013
Developmental molecular and functional cerebellar alterations induced by PCP4/PEP19 overexpression: implications for Down syndromeFrançois Mouton-Liger, Ignasi Sahún, Thibault Collin, et al.
European Journal of Human Genetics : EJHG|August 21, 2014
Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesitySophie Thomas, Vincent Cantagrel, Laura Mariani, et al.
Clinical Genetics|July 2, 2021
The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndromeLeïla Ghesh, Marie Denis Musquer, Louise Devisme, et al.
Plos Genetics|December 16, 2024
A Taybi-Linder syndrome-related RTTN variant impedes neural rosette formation in human cortical organoidsJustine Guguin, Ting-Yu Chen, Silvestre Cuinat, et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology|December 15, 2015
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformationCaroline Alby, Valérie Malan, Lucile Boutaud, et al.
Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.
Journal of Medical Genetics|September 1, 2010
BBS10 mutations are common in 'Meckel'-type cystic kidneysAudrey Putoux, Soumaya Mougou-Zerelli, Sophie Thomas, et al.
Pageof 9