المؤلفون: Martine Doco-Fenzy, Mustapha Elalloussi, Laura C. Collopy, Jean-Pierre de Villartay, Aomar Agadr, Thierry Leblanc, Pierre-François Souchon, Tom Vulliami, Bérénice Hervé, Rodolphe Dard, Stephanie Gorde, Rachid Abilkassem, Alain Verloes, Abel Babik, Séverine Drunat

المساهمون: Service de génétique [Reims], Centre Hospitalier Universitaire de Reims (CHU Reims), Service de génétique [Poissy], CHI Poissy-Saint-Germain, Service d'hématologie pédiatrique - CHU Reims, Laboratory of Human Genetics of Infectious Diseases (Necker Branch - INSERM U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Barts & The London School of Medicine and Dentistry [London, UK] (Blizard Institute), Queen Mary University of London (QMUL), Hôpital Robert Debré Paris, Hôpital Robert Debré, American Memorial Hospital (Hôpital des enfants) [Reims], Rabat Military Hospital, Hémostase et Remodelage Vasculaire Post-Ischémie (HERVI - EA 3801), Université de Reims Champagne-Ardenne (URCA)

المصدر: Pediatric Allergy and Immunology
Pediatric Allergy and Immunology, Wiley, 2017, 28 (3), pp.298-303. ⟨10.1111/pai.12694⟩

مصطلحات موضوعية: 0301 basic medicine, [SDV.GEN]Life Sciences [q-bio]/Genetics, Severe combined immunodeficiency, Microcephaly, business.industry, Immunology, LIG4 syndrome, LIG4, medicine.disease, Pancytopenia, Short stature, 3. Good health, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Seckel syndrome, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, medicine.symptom, business, ComputingMilieux_MISCELLANEOUS, 030217 neurology & neurosurgery, Immunodeficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::549fe4ab3977d09d382e5f31756c8684Test
https://doi.org/10.1111/pai.12694Test

المؤلفون: Jacek Majewski, Caroline Hasselmann, Brigitte Delemer, Thierry Brue, Aurelio Balsalobre, Jose-Mario Capo-Chichi, Jeremy Schwartzentruber, Dimitris T. Papadimitriou, Marco Bensa, Marie-Helene Quentien, Lysanne Patry, Mark E. Samuels, Pierre-François Souchon, Konstantin Khetchoumian, Christina Nassif, Jacques Drouin, Shinobu Takayasu, Alain Enjalbert, Anne Pagnier, Guy Van Vliet

المساهمون: Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut de génétique et biologie moléculaire et cellulaire (IGBMC), Université Louis Pasteur - Strasbourg I-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service d'Endocrinologie - Diabète - Nutrition [Reims], Université de Reims Champagne-Ardenne (URCA)-Hôpital Robert Debré-Centre Hospitalier Universitaire de Reims (CHU Reims), Alcatel-Lucent Bell - Belgique, Alacatel Lucent, McGill University and Genome Quebec Innovation Centre, CHU Sainte Justine [Montréal], Laboratory of Molecular Genetics, Institut de recherches cliniques de Montréal, Dumonceaud, Corinne

المصدر: BMC Medical Genetics
BMC Medical Genetics, 2014, 15, pp.139
BMC Medical Genetics, BioMed Central, 2014, 15, pp.139

مصطلحات موضوعية: Male, Pro-Opiomelanocortin, medicine.disease_cause, MESH: NF-kappa B p52 Subunit, Mice, 0302 clinical medicine, MESH: Pro-Opiomelanocortin, Genetics(clinical), MESH: Animals, Exome, [SDV.BBM.BC] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], Genetics (clinical), Exome sequencing, Immunodeficiency, Sanger sequencing, Genetics, 0303 health sciences, Mutation, MESH: Genetic Heterogeneity, Phenotype, 3. Good health, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biomolecules [q-bio.BM], Pedigree, MESH: Pituitary Hormones, Anterior, 030220 oncology & carcinogenesis, symbols, Female, Research Article, MESH: Mutation, MESH: Immunologic Deficiency Syndromes, MESH: Pedigree, Biology, 03 medical and health sciences, symbols.namesake, Genetic Heterogeneity, NF-kappa B p52 Subunit, Pituitary Hormones, Anterior, medicine, Endocrine system, Animals, Humans, [SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Biochemistry [q-bio.BM], MESH: Mice, 030304 developmental biology, MESH: Humans, Genetic heterogeneity, Immunologic Deficiency Syndromes, medicine.disease, MESH: Male, Disease Models, Animal, MESH: Disease Models, Animal, MESH: Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc823e72da80e35434173a3d4c13f7d2Test
https://hal.science/hal-01176935Test