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Thomas Besnard

Showing results (11-20 of 72) with videos related to

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Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Clinical Genetics|March 7, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesElyssa Smith, Victor Faundes, Xiaonan Zhao, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
European Journal of Human Genetics : EJHG|February 19, 2020
A dominant vimentin variant causes a rare syndrome with premature agingBenjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
Pageof 8

Showing results (11-20 of 72) with videos related to

Sort By:
Pageof 8
Clinical Genetics|September 2, 2024
Multiple congenital anomalies in two fetuses with glutathione-synthetase deficit (GSS)Jeanne Jury, Jean-François Benoist, Madeleine Joubert, et al.
Human Mutation|October 20, 2011
Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapyChristel Vaché, Thomas Besnard, Pauline le Berre, et al.
Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.
Clinical Genetics|March 7, 2026
WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental PhenotypesElyssa Smith, Victor Faundes, Xiaonan Zhao, et al.
European Journal of Human Genetics : EJHG|August 24, 2018
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle SyndromeMathilde Pacault, Marie Vincent, Thomas Besnard, et al.
European Journal of Human Genetics : EJHG|February 19, 2020
A dominant vimentin variant causes a rare syndrome with premature agingBenjamin Cogné, Jamal-Eddine Bouameur, Gaëlle Hayot, et al.
European Journal of Human Genetics : EJHG|June 5, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French networkMarie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels, et al.
Human Mutation|December 8, 2011
Non-USH2A mutations in USH2 patientsThomas Besnard, Christel Vaché, David Baux, et al.
Investigative Ophthalmology & Visual Science|March 26, 2011
Four-year follow-up of diagnostic service in USH1 patientsAnne-Françoise Roux, Valérie Faugère, Christel Vaché, et al.
Ebiomedicine|August 21, 2025
Ubiquitin-proteasome system dysregulation in FAM111B-related poikiloderma and phenotypic spectrum expansion: new case reports and long-term follow-upVirginie Vignard, Mike Maillasson, Anne Bigot, et al.
Pageof 8