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Florent Marguet

Showing results (61-70 of 65) with videos related to

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Acta Neuropathologica Communications|February 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamicsGaël Nicolas, Myriam Sévigny, François Lecoquierre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndromeValentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Nature Genetics|March 13, 2026
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusionsWouter De Coster, Marleen Van den Broeck, Matt Baker, et al.
Pageof 7

Showing results (61-70 of 65) with videos related to

Sort By:
Pageof 7
You have reached the last page of results.This site can display upto 65 results.
Acta Neuropathologica Communications|February 13, 2022
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamicsGaël Nicolas, Myriam Sévigny, François Lecoquierre, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 30, 2024
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivityMarine Tessarech, Gaëlle Friocourt, Florent Marguet, et al.
American Journal of Human Genetics|February 20, 2026
Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndromeValentina Serpieri, Myriam Vezain-Mouchard, Alessia Orsi, et al.
Journal of Medical Genetics|April 6, 2021
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenitaAnnie Laquerriere, Dana Jaber, Emanuela Abiusi, et al.
Nature Genetics|March 13, 2026
A repeat expansion in GOLGA8A is a major risk factor for atypical frontotemporal lobar degeneration with ubiquitin-positive inclusionsWouter De Coster, Marleen Van den Broeck, Matt Baker, et al.
Pageof 7