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Clinical Genetics
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November 7, 2019
Clinical variability and probable founder effect in oculocutaneous albinism type 7
Pauline Bataille, Vincent Michaud, Matthieu P Robert, et al.
Pigment Cell & Melanoma Research
|
June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Perrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.
Transboundary and Emerging Diseases
|
April 30, 2025
Flying Syringes for Emerging Enzootic Virus Screening: Proof of Concept for the Development of Noninvasive Xenosurveillance Tools Based on Tsetse Flies
Adeline Valente, Davy Jiolle, Sophie Ravel, et al.
Ophthalmic Genetics
|
June 23, 2025
Genetic analysis of participants with foveal hypoplasia
Raphael Lejoyeux, Vincent Michaud, Hugo Le Boité, et al.
Plos Genetics
|
September 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, et al.
Plos One
|
April 21, 2026
Genomic analysis of putative hybrids between Potamochoerus spp. and domestic pigs from sympatric areas in West Africa and Madagascar
Rianja Rakotoarivony, Nicolas Mary, Farid Bahleman, et al.
Circulation. Genomic and Precision Medicine
|
November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome
Clément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
The British Journal of Ophthalmology
|
November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene
Solene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Ophthalmic Genetics
|
November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variants
Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
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Search research articles
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Showing results (51-60 of 84) with videos related to
Sort By:
Page
of 9
Clinical Genetics
|
November 7, 2019
Clinical variability and probable founder effect in oculocutaneous albinism type 7
Pauline Bataille, Vincent Michaud, Matthieu P Robert, et al.
Pigment Cell & Melanoma Research
|
June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS
Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinism
Perrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.
Transboundary and Emerging Diseases
|
April 30, 2025
Flying Syringes for Emerging Enzootic Virus Screening: Proof of Concept for the Development of Noninvasive Xenosurveillance Tools Based on Tsetse Flies
Adeline Valente, Davy Jiolle, Sophie Ravel, et al.
Ophthalmic Genetics
|
June 23, 2025
Genetic analysis of participants with foveal hypoplasia
Raphael Lejoyeux, Vincent Michaud, Hugo Le Boité, et al.
Plos Genetics
|
September 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentation
Elina Mercier, David-Alexandre Trégouët, Sébastien Campagne, et al.
Plos One
|
April 21, 2026
Genomic analysis of putative hybrids between Potamochoerus spp. and domestic pigs from sympatric areas in West Africa and Madagascar
Rianja Rakotoarivony, Nicolas Mary, Farid Bahleman, et al.
Circulation. Genomic and Precision Medicine
|
November 12, 2025
Exploring <i>RBFOX2</i> Haploinsufficiency: A New Genetic Link to Hypoplastic Left Heart Syndrome
Clément Sauvestre, Amel Bouchatal, Claire Beneteau, et al.
The British Journal of Ophthalmology
|
November 26, 2018
Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the <i>TYR</i> gene
Solene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Ophthalmic Genetics
|
November 29, 2024
The phenotypic spectrum of <i>CEP250</i> gene variants
Cécile Courdier, Claire-Marie Dhaenens, Olivier Grunewald, et al.
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of 9