Zoekresultaten - Smail Hadj-Rabia

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score door Helene Dufresne, Oriane Maincent, Charles Taieb, Christine Bodemer, Smail Hadj-Rabia

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Challenges in Treating Genodermatoses: New Therapies at the Horizon door Marie-Anne Morren, Eric Legius, Fabienne Giuliano, Smail Hadj-Rabia, Daniel Hohl, Christine Bodemer

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Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia door Maleha S. Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia

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Incontinentia pigmenti burden scale: designing a family burden questionnaire door Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani, Christine Bodemer, the Filière Maladies Rares en Dermatologie

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Early management of sight threatening retinopathy in incontinentia pigmenti door Sarah Michel, Clothilde Reynaud, Alejandra Daruich, Smail Hadj-Rabia, Dominique Bremond-Gignac, Christine Bodemer, Matthieu P. Robert

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Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis door Clemence Lepelletier, Yasser Al-Sarraj, Christine Bodemer, Hibbah Shaath, Sylvie Fraitag, Marios Kambouris, Dominique Hamel-Teillac, Hatem El Shanti, Smail Hadj-Rabia

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The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism door Hugo Fournier, Marie Hasdenteufel, Constance Garrouteigt, Mathieu Perie, Antoine Gliksohn, Béatrice Jouanne, Smail Hadj-Rabia, Benoit Arveiler, Fanny Morice-Picard, Bruno Quintard

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Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus door Holm Schneider, Michael Schneider, Massimiliano Lia, Dorothy K. Grange, Smail Hadj-Rabia, Angus Clarke, Mary Fete, Agnes Jaulent, Marlene Guiraud, Anthony Odibo, Florian Faschingbauer

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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma door Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi

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Gynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study door Iphigénie Cavadias, Magali Viaud, Marie Falampin, Alaa Cheikhelard, Karinne Gueniche, Chloé Ouallouche, Dinane Samara-Boustani, Damien Bonnet, Nadia Bahi-Buisson, Pierre Quartier-dit-Maire, Smaïl Hadj-Rabia, Laurence Heidet, Slimane Allali, Pascale de Lonlay, Jeanne Amiel, Rima Nabbout, Despina Moshous, Valérie Cormier-Daire, Arnaud Picard, Isabelle Desguerre, Isabelle Sermet-Gaudelus, Graziella Pinto, Dominique Bremond-Gignac, Frank Ruemmele, Muriel Girard, Véronique Abadie, Syril James, Annie Harroche, Michel Polak, Sabrina Da Costa

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