Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Benoit Arveiler

Showing results (41-50 of 82) with videos related to

Pageof 9
Sort By:
Molecular Genetics and Metabolism Reports|June 30, 2026
<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenicModibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, et al.
Gene|November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
The Journal of Investigative Dermatology|December 3, 2019
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol HomeostasisFanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, et al.
Genes|December 23, 2022
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype CorrelationEster Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Pigment Cell & Melanoma Research|August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 lociFanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Parkinsonism & Related Disorders|June 8, 2014
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomaliesSébastien Moutton, Patricia Fergelot, Jean-Marc Trocello, et al.
Clinical Case Reports|May 5, 2017
The importance of functional tests to assess the effect of a new <i>CFTR</i> variant when genotype-phenotype correlation is not possibleAlexandre Hinzpeter, Marie-Pierre Reboul, Isabelle Callebaut, et al.
American Journal of Medical Genetics. Part A|March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi SyndromeEric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
Pageof 9

Showing results (41-50 of 82) with videos related to

Sort By:
Pageof 9
Molecular Genetics and Metabolism Reports|June 30, 2026
<i>OCA2</i> common variant NM_000275.3:c.574-19A>G affects splicing and is pathogenicModibo Diallo, Alicia Defay-Stinat, Claudio Plaisant, et al.
Gene|November 7, 2024
A 65 kilobase deletion of the upstream TYR gene region in a family with oculocutaneous albinism type 1Modibo Diallo, Alicia Defay-Stinat, Victor Gindensperger, et al.
The Journal of Investigative Dermatology|December 3, 2019
Hereditary Mucoepithelial Dysplasia Results from Heterozygous Variants at p.Arg557 Mutational Hotspot in SREBF1, Encoding a Transcription Factor Involved in Cholesterol HomeostasisFanny Morice-Picard, Vincent Michaud, Eulalie Lasseaux, et al.
Genes|December 23, 2022
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype CorrelationEster Moreno-Artero, Fanny Morice-Picard, Eulalie Lasseaux, et al.
Pigment Cell & Melanoma Research|August 7, 2015
Albinism in a patient with mutations at both the OA1 and OCA3 lociFanny Morice-Picard, Eulalie Lasseaux, Claudio Plaisant, et al.
Parkinsonism & Related Disorders|June 8, 2014
A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomaliesSébastien Moutton, Patricia Fergelot, Jean-Marc Trocello, et al.
Clinical Case Reports|May 5, 2017
The importance of functional tests to assess the effect of a new <i>CFTR</i> variant when genotype-phenotype correlation is not possibleAlexandre Hinzpeter, Marie-Pierre Reboul, Isabelle Callebaut, et al.
American Journal of Medical Genetics. Part A|March 24, 2019
PADDAS syndrome associated with hair dysplasia caused by a de novo missense variant of PUM1Paul Bonnemason-Carrere, Fanny Morice-Picard, Perrine Pennamen, et al.
American Journal of Medical Genetics. Part A|July 8, 2005
X-linked dominant chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmiaNicolas Chassaing, Virginie Siani, Dominique Carles, et al.
European Journal of Human Genetics : EJHG|June 12, 2014
Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi SyndromeEric Bieth, Sanaa Eddiry, Véronique Gaston, et al.
Pageof 9