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Nicolas Chassaing

Showing results (21-30 of 101) with videos related to

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American Journal of Medical Genetics. Part A|April 23, 2016
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmiaNicolas Chassaing, Nicola Ragge, Julie Plaisancié, et al.
American Journal of Medical Genetics. Part A|May 7, 2024
ITPR1: The missing gene in miosis-ataxia syndrome?Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, et al.
European Journal of Medical Genetics|February 14, 2016
Incomplete penetrance of biallelic ALDH1A3 mutationsJulie Plaisancié, Dominique Brémond-Gignac, Bénédicte Demeer, et al.
International Journal of Molecular Sciences|January 21, 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital AniridiaAlejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, et al.
Kidney International|June 5, 2014
The HNF1B score is a simple tool to select patients for HNF1B gene analysisStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
European Journal of Medical Genetics|August 14, 2018
Severe gynaecological involvement in Proteus SyndromeMaella Severino-Freire, Aude Maza, Paul Kuentz, et al.
European Journal of Human Genetics : EJHG|November 20, 2022
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeBertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
International Journal of Molecular Sciences|March 13, 2024
Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex MicrophthalmiaJulie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, et al.
Healthcare (Basel, Switzerland)|September 28, 2021
From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-UpCharlotte Thomas, Frédéric Vaysse, Teva Courset, et al.
Human Genetics|November 6, 2024
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humansVianney Cortés-González, Miguel Rodriguez-Morales, Paris Ataliotis, et al.
Pageof 11

Showing results (21-30 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|April 23, 2016
Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmiaNicolas Chassaing, Nicola Ragge, Julie Plaisancié, et al.
American Journal of Medical Genetics. Part A|May 7, 2024
ITPR1: The missing gene in miosis-ataxia syndrome?Bertrand Chesneau, Patrick Calvas, Myriam Cassagne, et al.
European Journal of Medical Genetics|February 14, 2016
Incomplete penetrance of biallelic ALDH1A3 mutationsJulie Plaisancié, Dominique Brémond-Gignac, Bénédicte Demeer, et al.
International Journal of Molecular Sciences|January 21, 2023
Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in <i>PAX6</i> in Congenital AniridiaAlejandra Tamayo, Gonzalo Núñez-Moreno, Carolina Ruiz, et al.
Kidney International|June 5, 2014
The HNF1B score is a simple tool to select patients for HNF1B gene analysisStanislas Faguer, Nicolas Chassaing, Flavio Bandin, et al.
European Journal of Medical Genetics|August 14, 2018
Severe gynaecological involvement in Proteus SyndromeMaella Severino-Freire, Aude Maza, Paul Kuentz, et al.
European Journal of Human Genetics : EJHG|November 20, 2022
Evaluation of somatic and/or germline mosaicism in congenital malformation of the eyeBertrand Chesneau, Véronique Ivashchenko, Christophe Habib, et al.
International Journal of Molecular Sciences|March 13, 2024
Structural Variant Disrupting the Expression of the Remote <i>FOXC1</i> Gene in a Patient with Syndromic Complex MicrophthalmiaJulie Plaisancié, Bertrand Chesneau, Lucas Fares-Taie, et al.
Healthcare (Basel, Switzerland)|September 28, 2021
From Child to Adulthood, a Multidisciplinary Approach of Multiple Microdontia Associated with Hypodontia: Case Report Relating a 15 Year-Long Management and Follow-UpCharlotte Thomas, Frédéric Vaysse, Teva Courset, et al.
Human Genetics|November 6, 2024
Homozygosity for a hypomorphic mutation in frizzled class receptor 5 causes syndromic ocular coloboma with microcornea in humansVianney Cortés-González, Miguel Rodriguez-Morales, Paris Ataliotis, et al.
Pageof 11