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Pigment Cell Research
|
May 18, 2006
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
Caroline Rooryck, Christel Roudaut, Eulalie Robine, et al.
Journal of Medical Genetics
|
February 3, 2022
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, et al.
BMC Medical Genomics
|
February 25, 2025
Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign
Louis Domenach, Caroline Rooryck, Marine Legendre, et al.
Scientific Reports
|
December 4, 2018
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
Marie Berenguer, Muriel Darnaudery, Stéphane Claverol, et al.
European Journal of Human Genetics : EJHG
|
January 15, 2004
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
Cyril Goizet, Isabelle Coupry, Caroline Rooryck, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 2, 2005
SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy
Thierry Lamireau, Sylviane Olschwang, Caroline Rooryck, et al.
European Journal of Human Genetics : EJHG
|
June 6, 2025
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
Camille Bergès, Fanny Laffargue, Claire Dauphin, et al.
Pigment Cell & Melanoma Research
|
September 30, 2008
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects
Caroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, et al.
European Journal of Human Genetics : EJHG
|
March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum
Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
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> gene
Clément Sauvestre, Marie-José Boileau, Camille Caule, et al.
Page
of 13
Search research articles
Search
Showing results (1-10 of 124) with videos related to
Sort By:
Page
of 13
Pigment Cell Research
|
May 18, 2006
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient
Caroline Rooryck, Christel Roudaut, Eulalie Robine, et al.
Journal of Medical Genetics
|
February 3, 2022
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease
Angèle Tingaud-Sequeira, Aurélien Trimouille, Thomas Sagardoy, et al.
BMC Medical Genomics
|
February 25, 2025
Antenatal phenotype associated with PAK2 pathogenic variants: bilateral pleural effusion as a warning sign
Louis Domenach, Caroline Rooryck, Marine Legendre, et al.
Scientific Reports
|
December 4, 2018
Prenatal retinoic acid exposure reveals candidate genes for craniofacial disorders
Marie Berenguer, Muriel Darnaudery, Stéphane Claverol, et al.
European Journal of Human Genetics : EJHG
|
January 15, 2004
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy
Cyril Goizet, Isabelle Coupry, Caroline Rooryck, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
July 2, 2005
SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy
Thierry Lamireau, Sylviane Olschwang, Caroline Rooryck, et al.
European Journal of Human Genetics : EJHG
|
June 6, 2025
A novel heterozygous pathogenic variant in HEY2 led to a familial form of non-syndromic Tetralogy of Fallot
Camille Bergès, Fanny Laffargue, Claire Dauphin, et al.
Pigment Cell & Melanoma Research
|
September 30, 2008
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects
Caroline Rooryck, Fanny Morice-Picard, Nursel H Elçioglu, et al.
European Journal of Human Genetics : EJHG
|
March 25, 2025
Novel variants in FOXI3 gene confirm its implication in Oculo-Auriculo-Vertebral spectrum
Angèle Sequeira, Thomas Sagardoy, Laetitia Bourgeade, et al.
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> gene
Clément Sauvestre, Marie-José Boileau, Camille Caule, et al.
Page
of 13