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Smail Hadj-Rabia

Showing results (51-60 of 125) with videos related to

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Human Molecular Genetics|April 2, 2003
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeFlorence Jobard, Bakar Bouadjar, Frédéric Caux, et al.
Journal of the American Academy of Dermatology|May 19, 2015
Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?Stéphanie Leclerc-Mercier, Christine Bodemer, Benoit Michel, et al.
Journal of the American Academy of Dermatology|April 28, 2024
Experience of dupilumab treatment in inherited epidermolysis bullosa: A short seriesNathalia Bellon, Pauline Bataille, Julie Bonigen, et al.
BMC Medicine|January 28, 2024
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinismHugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, et al.
Genes|December 23, 2022
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated PhenotypeLaura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, et al.
American Journal of Medical Genetics. Part A|October 27, 2019
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotypeBenjamin Dudoignon, Celine Huber, Caroline Michot, et al.
The Journal of Clinical Endocrinology and Metabolism|January 29, 2026
Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: a single centre experienceNicola Improda, Harshini Katugampola, Manuela Cerbone, et al.
American Journal of Medical Genetics. Part A|July 11, 2017
Automatic recognition of the XLHED phenotype from facial imagesSmail Hadj-Rabia, Holm Schneider, Elena Navarro, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafnessDelphine Feldmann, Françoise Denoyelle, Hélène Blons, et al.
Journal of Biomedical Informatics|July 30, 2017
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stackNicolas Garcelon, Antoine Neuraz, Vincent Benoit, et al.
Pageof 13

Showing results (51-60 of 125) with videos related to

Sort By:
Pageof 13
Human Molecular Genetics|April 2, 2003
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndromeFlorence Jobard, Bakar Bouadjar, Frédéric Caux, et al.
Journal of the American Academy of Dermatology|May 19, 2015
Melanoma in xeroderma pigmentosum type C children: Overrepresentation of desmoplastic type?Stéphanie Leclerc-Mercier, Christine Bodemer, Benoit Michel, et al.
Journal of the American Academy of Dermatology|April 28, 2024
Experience of dupilumab treatment in inherited epidermolysis bullosa: A short seriesNathalia Bellon, Pauline Bataille, Julie Bonigen, et al.
BMC Medicine|January 28, 2024
The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinismHugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, et al.
Genes|December 23, 2022
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated PhenotypeLaura Fertitta, Fabienne Charbit-Henrion, Stéphanie Leclerc-Mercier, et al.
American Journal of Medical Genetics. Part A|October 27, 2019
Expanding the phenotype in Adams-Oliver syndrome correlating with the genotypeBenjamin Dudoignon, Celine Huber, Caroline Michot, et al.
The Journal of Clinical Endocrinology and Metabolism|January 29, 2026
Clinical spectrum of extreme insulin resistance syndromes treated with rhIGF-1: a single centre experienceNicola Improda, Harshini Katugampola, Manuela Cerbone, et al.
American Journal of Medical Genetics. Part A|July 11, 2017
Automatic recognition of the XLHED phenotype from facial imagesSmail Hadj-Rabia, Holm Schneider, Elena Navarro, et al.
American Journal of Medical Genetics. Part A|August 2, 2005
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafnessDelphine Feldmann, Françoise Denoyelle, Hélène Blons, et al.
Journal of Biomedical Informatics|July 30, 2017
Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stackNicolas Garcelon, Antoine Neuraz, Vincent Benoit, et al.
Pageof 13