Hasil Pencarian - Smail Hadj-Rabia

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  1. 1
    A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

    A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement oleh Holm Schneider, Christine Schweikl, Florian Faschingbauer, Smail Hadj-Rabia, Pascal Schneider

    Diterbitkan 2023-04-01
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  2. 2
    The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score

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

    Diterbitkan 2023-08-01
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  3. 3
    The Fate of Epidermal Tight Junctions in the <i>stratum corneum</i>: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions

    The Fate of Epidermal Tight Junctions in the <i>stratum corneum</i>: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions oleh Marek Haftek, Vinzenz Oji, Laurence Feldmeyer, Daniel Hohl, Smaïl Hadj-Rabia, Rawad Abdayem

    Diterbitkan 2022-07-01
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  4. 4
    Challenges in Treating Genodermatoses: New Therapies at the Horizon

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

    Diterbitkan 2022-01-01
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  5. 5
    Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia

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

    Diterbitkan 2020-06-01
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  6. 6
    Incontinentia pigmenti burden scale: designing a family burden questionnaire

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

    Diterbitkan 2019-11-01
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  7. 7
    Early management of sight threatening retinopathy in incontinentia pigmenti

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

    Diterbitkan 2020-08-01
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  8. 8
    Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis

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

    Diterbitkan 2017-04-01
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  9. 9
    The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

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

    Diterbitkan 2024-01-01
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  10. 10
    Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma

    Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma oleh 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

    Diterbitkan 2020-02-01
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  11. 11
    Functional Characterization of Splice Variants in the Diagnosis of Albinism

    Functional Characterization of Splice Variants in the Diagnosis of Albinism oleh Modibo Diallo, Cécile Courdier, Elina Mercier, Angèle Sequeira, Alicia Defay-Stinat, Claudio Plaisant, Shahram Mesdaghi, Daniel Rigden, Sophie Javerzat, Eulalie Lasseaux, Laetitia Bourgeade, Séverine Audebert-Bellanger, Hélène Dollfus, Smail Hadj-Rabia, Fanny Morice-Picard, Manon Philibert, Mohamed Kole Sidibé, Vasily Smirnov, Ousmane Sylla, Vincent Michaud, Benoit Arveiler

    Diterbitkan 2024-08-01
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