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Nicolas Chassaing

Showing results (41-50 of 101) with videos related to

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European Journal of Human Genetics : EJHG|January 8, 2021
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disordersBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literatureBertrand Chesneau, Thomas Edouard, Yves Dulac, et al.
Journal of the American Society of Nephrology : JASN|July 26, 2017
Hepatocyte Nuclear Factor-1<i>β</i> Controls Mitochondrial Respiration in Renal Tubular CellsAudrey Casemayou, Audren Fournel, Alessia Bagattin, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
BMC Ophthalmology|May 28, 2026
High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridiaMarjolaine Willems, Jérôme Vialaret, Mélissa Girard, et al.
American Journal of Human Genetics|August 2, 2016
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas DeferensOlivier Patat, Adrien Pagin, Aurore Siegfried, et al.
European Journal of Human Genetics : EJHG|August 2, 2020
Confirmation of FZD5 implication in a cohort of 50 patients with ocular colobomaMarion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, et al.
European Journal of Human Genetics : EJHG|March 30, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmiaYesim Kesim, Fabiola Ceroni, Alejandra Damián, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
European Journal of Medical Genetics|July 14, 2010
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathyGilles Millat, Patrice Bouvagnet, Philippe Chevalier, et al.
Pageof 11

Showing results (41-50 of 101) with videos related to

Sort By:
Pageof 11
European Journal of Human Genetics : EJHG|January 8, 2021
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disordersBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literatureBertrand Chesneau, Thomas Edouard, Yves Dulac, et al.
Journal of the American Society of Nephrology : JASN|July 26, 2017
Hepatocyte Nuclear Factor-1<i>β</i> Controls Mitochondrial Respiration in Renal Tubular CellsAudrey Casemayou, Audren Fournel, Alessia Bagattin, et al.
Journal of Human Genetics|February 5, 2020
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesisCelia Zazo-Seco, Julie Plaisancié, Pierre Bitoun, et al.
BMC Ophthalmology|May 28, 2026
High-performance proteomics reveals immune, epithelial, and vascular dysregulation underlying lacrimal fluid defects in patients with aniridiaMarjolaine Willems, Jérôme Vialaret, Mélissa Girard, et al.
American Journal of Human Genetics|August 2, 2016
Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas DeferensOlivier Patat, Adrien Pagin, Aurore Siegfried, et al.
European Journal of Human Genetics : EJHG|August 2, 2020
Confirmation of FZD5 implication in a cohort of 50 patients with ocular colobomaMarion Aubert-Mucca, Julie Pernin-Grandjean, Sébastien Marchasson, et al.
European Journal of Human Genetics : EJHG|March 30, 2023
Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmiaYesim Kesim, Fabiola Ceroni, Alejandra Damián, et al.
Human Mutation|October 6, 2009
Missense mutations of conserved glycine residues in fibrillin-1 highlight a potential subtype of cb-EGF-like domainsPhilippe Khau Van Kien, David Baux, Nathalie Pallares-Ruiz, et al.
European Journal of Medical Genetics|July 14, 2010
Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathyGilles Millat, Patrice Bouvagnet, Philippe Chevalier, et al.
Pageof 11