Arama Sonuçları - Smaïl Hadj-Rabia

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

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Challenges in Treating Genodermatoses: New Therapies at the Horizon Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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 Yazar: 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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