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Nicolas Chassaing

Showing results (11-20 of 101) with videos related to

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Cardiology in the Young|October 11, 2024
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in <i>BCOR</i> geneClément Sauvestre, Marie-José Boileau, Camille Caule, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 11, 2009
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthoodStanislas Faguer, Adèle Pillet, Nicolas Chassaing, et al.
Journal of the American Academy of Dermatology|March 15, 2011
Acquired pseudoxanthoma elasticum presenting after liver transplantationLionel Bercovitch, Ludovic Martin, Nicolas Chassaing, et al.
Clinical Genetics|January 22, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental AnomaliesBertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, et al.
The Journal of Investigative Dermatology|April 17, 2004
Novel ABCC6 mutations in pseudoxanthoma elasticumNicolas Chassaing, Ludovic Martin, Juliette Mazereeuw, et al.
Archives of Dermatology|March 19, 2008
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXELudovic Martin, Frédéric Maître, Pierre Bonicel, et al.
American Journal of Medical Genetics. Part A|February 3, 2023
First implication of MIP in bilateral microphthalmia with persistent fetal vasculatureMélissa Santorini, Bertrand Chesneau, Patricia Koskas-Boublil, et al.
Dermatology (Basel, Switzerland)|May 11, 2016
Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell CarcinomaElisabeth Guinard, Laureline Legendre, Nora Kramkimel, et al.
European Journal of Medical Genetics|August 2, 2022
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasiaCécile Courdier, Anna Gemahling, Damien Guindolet, et al.
European Journal of Medical Genetics|May 5, 2011
A 17q12 chromosomal duplication associated with renal disease and esophageal atresiaStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Pageof 11

Showing results (11-20 of 101) with videos related to

Sort By:
Pageof 11
Cardiology in the Young|October 11, 2024
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in <i>BCOR</i> geneClément Sauvestre, Marie-José Boileau, Camille Caule, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 11, 2009
Nephropathy in Townes-Brocks syndrome (SALL1 mutation): imaging and pathological findings in adulthoodStanislas Faguer, Adèle Pillet, Nicolas Chassaing, et al.
Journal of the American Academy of Dermatology|March 15, 2011
Acquired pseudoxanthoma elasticum presenting after liver transplantationLionel Bercovitch, Ludovic Martin, Nicolas Chassaing, et al.
Clinical Genetics|January 22, 2026
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental AnomaliesBertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, et al.
The Journal of Investigative Dermatology|April 17, 2004
Novel ABCC6 mutations in pseudoxanthoma elasticumNicolas Chassaing, Ludovic Martin, Juliette Mazereeuw, et al.
Archives of Dermatology|March 19, 2008
Heterozygosity for a single mutation in the ABCC6 gene may closely mimic PXE: consequences of this phenotype overlap for the definition of PXELudovic Martin, Frédéric Maître, Pierre Bonicel, et al.
American Journal of Medical Genetics. Part A|February 3, 2023
First implication of MIP in bilateral microphthalmia with persistent fetal vasculatureMélissa Santorini, Bertrand Chesneau, Patricia Koskas-Boublil, et al.
Dermatology (Basel, Switzerland)|May 11, 2016
Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell CarcinomaElisabeth Guinard, Laureline Legendre, Nora Kramkimel, et al.
European Journal of Medical Genetics|August 2, 2022
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasiaCécile Courdier, Anna Gemahling, Damien Guindolet, et al.
European Journal of Medical Genetics|May 5, 2011
A 17q12 chromosomal duplication associated with renal disease and esophageal atresiaStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
Pageof 11