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Benoit Arveiler

Showing results (61-70 of 82) with videos related to

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Pigment Cell & Melanoma Research|June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPSVincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.
Plos Genetics|September 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentationElina Mercier, David-Alexandre Trégouët, Sébastien Campagne, et al.
Ophthalmic Genetics|June 23, 2025
Genetic analysis of participants with foveal hypoplasiaRaphael Lejoyeux, Vincent Michaud, Hugo Le Boité, et al.
Journal of Autism and Developmental Disorders|July 28, 2017
Evaluation of Motor Skills in Children with Rubinstein-Taybi SyndromeJean René Cazalets, Emma Bestaven, Emilie Doat, 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> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
Pageof 9

Showing results (61-70 of 82) with videos related to

Sort By:
Pageof 9
Pigment Cell & Melanoma Research|June 23, 2017
Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPSVincent Michaud, Eulalie Lasseaux, Claudio Plaisant, et al.
Molecular Genetics & Genomic Medicine|June 27, 2020
Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypesFenja Markus, Chloé Angelini, Aurelien Trimouille, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 26, 2020
Dopachrome tautomerase variants in patients with oculocutaneous albinismPerrine Pennamen, Angèle Tingaud-Sequeira, Iveta Gazova, et al.
Plos Genetics|September 25, 2025
From paleness to albinism: Contribution of OCA2 exon 10 skipping to hypopigmentationElina Mercier, David-Alexandre Trégouët, Sébastien Campagne, et al.
Ophthalmic Genetics|June 23, 2025
Genetic analysis of participants with foveal hypoplasiaRaphael Lejoyeux, Vincent Michaud, Hugo Le Boité, et al.
Journal of Autism and Developmental Disorders|July 28, 2017
Evaluation of Motor Skills in Children with Rubinstein-Taybi SyndromeJean René Cazalets, Emma Bestaven, Emilie Doat, 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> geneSolene Monfermé, Eulalie Lasseaux, Catherine Duncombe-Poulet, et al.
Human Molecular Genetics|January 19, 2010
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patientsClaudia Braida, Rhoda K A Stefanatos, Berit Adam, et al.
Journal of Medical Genetics|August 21, 2007
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndromeCaroline Nava, Nadine Hanna, Caroline Michot, et al.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
Pageof 9