يعرض 1 - 10 نتائج من 442 نتيجة بحث عن '"Hadj ‐ Rabia, Smaïl"', وقت الاستعلام: 1.39s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS ‐positive variant patients

    المؤلفون: Bessis, Didier, Bursztejn, Anne‐claire, Morice‐picard, Fanny, Capri, Yline, Barbarot, Sébastien, Aubert, Hélène, Bodet, Damien, Bourrat, Emmanuelle, Chiaverini, Christine, Poujade, Laura, Willems, Marjolaine, Rouanet, Jacques, Dompmartin‐blanchère, Anne, Geneviève, David, Gerard, Marion, Ginglinger, Emmanuelle, Hadj‐rabia, Smaïl, Martin, Ludovic, Mazereeuw‐hautier, Juliette, Bibas, Nathalie, Molinari, Nicolas, Herman, Fanchon, Phan, Alice, Rod, Julien, Roger, Hugues, Sigaudy, Sabine, Ziegler, Alban, Vial, Yoann, Verloes, Alain, Cavé, Hélène, Lacombe, Didier

    المساهمون: Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier -Université de Montpellier (UM), Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Montpellier, Hôpital Pellegrin, CHU Bordeaux-Groupe hospitalier Pellegrin, Hôpital Robert Debré, Hôtel-Dieu de Nantes, CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), AP-HP Hôpital universitaire Robert-Debré Paris, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Arnaud de Villeneuve CHRU Montpellier, Service de Dermatologie et Oncologie Cutanée CHU Clermont-Ferrand, CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand-CHU Clermont-Ferrand, CHU Clermont-Ferrand, Université de Caen Normandie (UNICAEN), Normandie Université (NU), Service de Génétique CHU Caen, Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Groupe hospitalier de la région de Mulhouse et Sud-Alsace, Hôpital Necker - Enfants Malades AP-HP, Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital de la Colombière, Hôpital Femme Mère Enfant CHU - HCL (HFME), Hospices Civils de Lyon (HCL), Service de Chirurgie Pédiatrique CHU Caen, Auteur indépendant, Département de génétique Robert Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré Paris, Hôpital de la Timone CHU - APHM (TIMONE), Aix Marseille Université (AMU), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Université d'Angers (UA), Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Bordeaux (CHU de Bordeaux)

    المصدر: ISSN: 0926-9959.

    مصطلحات موضوعية: [SDV.CAN]Life Sciences [q-bio]/Cancer, [SDV.IB.MN]Life Sciences [q-bio]/Bioengineering/Nuclear medicine, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38595321; hal-04613110; https://hal.science/hal-04613110Test; https://hal.science/hal-04613110/documentTest; https://hal.science/hal-04613110/file/Acad%20Dermatol%20Venereol%20-%202024%20-%20Bessis%20-%20Dermatological%20manifestations%20in%20Costello%20syndrome%20A%20prospective%20multicentric.pdfTest; PUBMED: 38595321

    الإتاحة: https://doi.org/10.1111/jdv.19996Test
    https://hal.science/hal-04613110Test
    https://hal.science/hal-04613110/documentTest
    https://hal.science/hal-04613110/file/Acad%20Dermatol%20Venereol%20-%202024%20-%20Bessis%20-%20Dermatological%20manifestations%20in%20Costello%20syndrome%20A%20prospective%20multicentric.pdfTest

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  2. 2
    دورية أكاديمية
    Drugs associated with epidermal necrolysis in children: A World Health Organization pharmacovigilance database analysis

    المؤلفون: Bataille, Pauline, Lebrun‐Vignes, Benedicte, Bettuzzi, Thomas, Ingen‐Housz‐Oro, Saskia, Hadj‐Rabia, Smail, Welfringer‐Morin, Anne, Bodemer, Christine

    المصدر: Journal of the European Academy of Dermatology and Venereology ; ISSN 0926-9959 1468-3083

    الإتاحة: https://doi.org/10.1111/jdv.20054Test

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  3. 3
    دورية أكاديمية
    The experience of albinism in France: a qualitative study on dyads of parents and their adult child with albinism

    المؤلفون: Fournier, Hugo, Hasdenteufel, Marie, Garrouteigt, Constance, Perie, Mathieu, Gliksohn, Antoine, Jouanne, Béatrice, Hadj-Rabia, Smail, Arveiler, Benoit, Morice-Picard, Fanny, Quintard, Bruno

    المساهمون: Fondation Maladies Rares

    المصدر: BMC Medicine ; volume 22, issue 1 ; ISSN 1741-7015

    مصطلحات موضوعية: General Medicine

    الإتاحة: https://doi.org/10.1186/s12916-024-03251-zTest

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  4. 4
    دورية أكاديمية
    PRIMA-1MET/APR-246 Can Partially Rescue In Vitro Cell Adhesion of Patient-Derived Junctional Epidermolysis Bullosa Epidermal Cells

    المؤلفون: Berthy, Clément, Gagnoux-Palacios, Laurent, Madrange, Marine, Bodemer, Christine, Cagnard, Nicolas, Hadj-Rabia, Smail, Petit, Isabelle, Aberdam, Daniel

    المصدر: Journal of Investigative Dermatology ; volume 144, issue 3, page 717-719 ; ISSN 0022-202X

    مصطلحات موضوعية: Cell Biology, Dermatology, Molecular Biology, Biochemistry

    الإتاحة: https://doi.org/10.1016/j.jid.2023.08.021Test
    https://api.elsevier.com/content/article/PII:S0022202X23025861?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0022202X23025861?httpAccept=text/plainTest

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  5. 5
    دورية أكاديمية
    L’éducation thérapeutique du patient par le numérique (e-ETP) : une opportunité pour le patient ?

    المؤلفون: Dufresne, Hélène, Dimarcq, Sarah, Godot, Cécile, Bodemer, Christine, Hadj-Rabia, Smail

    المصدر: Médecine des Maladies Métaboliques ; volume 18, issue 1, page 27-37 ; ISSN 1957-2557

    مصطلحات موضوعية: Cardiology and Cardiovascular Medicine, Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Internal Medicine

    الإتاحة: https://doi.org/10.1016/j.mmm.2023.12.011Test
    https://api.elsevier.com/content/article/PII:S1957255723002833?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1957255723002833?httpAccept=text/plainTest

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  6. 6
    دورية أكاديمية
    A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement

    المؤلفون: Schneider, Holm, Schweikl, Christine, Faschingbauer, Florian, Hadj-Rabia, Smail, Schneider, Pascal

    مصطلحات موضوعية: ddc:610

    وصف الملف: application/pdf

    العلاقة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/22840Test; urn:nbn:de:bvb:29-opus4-228402; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-228402Test; https://doi.org/10.3390/ijms24087155Test; https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdfTest

    الإتاحة: https://doi.org/10.3390/ijms24087155Test
    https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/22840Test
    https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-228402Test
    https://opus4.kobv.de/opus4-fau/files/22840/ijms-24-07155-v2.pdfTest

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  7. 7
    دورية أكاديمية
    Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

    المؤلفون: Schneider, Holm, Hadj-Rabia, Smail, Faschingbauer, Florian, Bodemer, Christine, Grange, Dorothy K., Norton, Mary E., Cavalli, Riccardo, Tadini, Gianluca, Stepan, Holger, Clarke, Angus, Guillén-Navarro, Encarna, Maier-Wohlfart, Sigrun, Bouroubi, Athmane, Porte, Florence

    مصطلحات موضوعية: ddc:610

    وصف الملف: application/pdf

    العلاقة: https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/21577Test; urn:nbn:de:bvb:29-opus4-215778; https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-215778Test; https://doi.org/10.3390/genes14010153Test; https://opus4.kobv.de/opus4-fau/files/21577/genes-14-00153.pdfTest

    الإتاحة: https://doi.org/10.3390/genes14010153Test
    https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/21577Test
    https://nbn-resolving.org/urn:nbn:de:bvb:29-opus4-215778Test
    https://opus4.kobv.de/opus4-fau/files/21577/genes-14-00153.pdfTest

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  8. 8
    دورية أكاديمية
    Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism. ; Pigment Cell Melanoma Res

    المؤلفون: MICHAUD, Vincent, SEQUEIRA, Angèle, MERCIER, Elina, LASSEAUX, Eulalie, PLAISANT, Claudio, HADJ-RABIA, Smail, WHALEN, Sandra, BONNEAU, Dominique, DIEUX COESLIER, Anne, MORICE-PICARD, Fanny, COURSIMAULT, Juliette, ARVEILER, Benoit, JAVERZAT, Sophie

    مصطلحات موضوعية: Albinism, diagnosis, Exon skipping, mRNA, Noninvasive, OCA2, Variant of unknown significance, Sciences du Vivant [q-bio]/Génétique

    العلاقة: https://oskar-bordeaux.fr/handle/20.500.12278/188192Test

    الإتاحة: https://doi.org/20.500.12278/188192Test
    https://doi.org/10.1111/pcmr.13123Test
    https://oskar-bordeaux.fr/handle/20.500.12278/188192Test
    https://hdl.handle.net/20.500.12278/188192Test

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  9. 9
    دورية أكاديمية
    MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by

    المؤلفون: Perrin, Simon, Protic, Sanela, Bretegnier, Vincent, Laurendeau, Ingrid, de Lageneste, Oriane Duchamp, Panara, Nicolas, Ruckebusch, Odile, Luka, Marine, Masson, Cécile, Maillard, Théodora, Coulpier, Fanny, Pannier, Stéphanie, Wicart, Philippe, Hadj-Rabia, Smail, Radomska, Katarzyna J, Zarhrate, Mohammed, Ménager, Mickael, Vidaud, Dominique, Topilko, Piotr, Parfait, Béatrice, Colnot, Céline

    المصدر: Sci Transl Med ; ISSN:1946-6242 ; Volume:16 ; Issue:753

    العلاقة: https://doi.org/10.1126/scitranslmed.adj1597Test; https://pubmed.ncbi.nlm.nih.gov/38924432Test

    الإتاحة: https://doi.org/10.1126/scitranslmed.adj1597Test
    https://pubmed.ncbi.nlm.nih.gov/38924432Test

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  10. 10
    دورية أكاديمية
    Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene

    المؤلفون: Steffann, Julie, De Oliveira Santos, Judite, Zelbin, Anne‐Laure, Hadj‐Rabia, Smail, Charbit‐Henrion, Fabienne, Petit, Florence

    المصدر: American Journal of Medical Genetics Part A ; ISSN 1552-4825 1552-4833

    الإتاحة: https://doi.org/10.1002/ajmg.a.63591Test

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