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Patrick Calvas

Showing results (31-40 of 97) with videos related to

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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 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 4, 2022
GM2 gangliosidosis AB variant: first case of late onset and review of the literatureBenjamin Ganne, Benjamin Dauriat, Laurence Richard, et al.
Investigative Ophthalmology & Visual Science|June 9, 2012
Genetic factors for choroidal neovascularization associated with high myopiaNicolas Leveziel, Yi Yu, Robyn Reynolds, et al.
Ophthalmic Genetics|February 7, 2018
Identification of PITX3 mutations in individuals with various ocular developmental defectsCelia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, et al.
Journal of Nephrology|March 7, 2016
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counselingRoger Mieusset, Isabelle Fauquet, Dominique Chauveau, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Pageof 10

Showing results (31-40 of 97) with videos related to

Sort By:
Pageof 10
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 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 4, 2022
GM2 gangliosidosis AB variant: first case of late onset and review of the literatureBenjamin Ganne, Benjamin Dauriat, Laurence Richard, et al.
Investigative Ophthalmology & Visual Science|June 9, 2012
Genetic factors for choroidal neovascularization associated with high myopiaNicolas Leveziel, Yi Yu, Robyn Reynolds, et al.
Ophthalmic Genetics|February 7, 2018
Identification of PITX3 mutations in individuals with various ocular developmental defectsCelia Zazo Seco, Julie Plaisancié, Tatiana Lupasco, et al.
Journal of Nephrology|March 7, 2016
The spectrum of renal involvement in male patients with infertility related to excretory-system abnormalities: phenotypes, genotypes, and genetic counselingRoger Mieusset, Isabelle Fauquet, Dominique Chauveau, et al.
European Journal of Medical Genetics|February 1, 2011
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritisStanislas Faguer, Annachiara De Sandre-Giovannoli, Michèle Hemery, et al.
Pageof 10