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المؤلفون: Caroline Hasselmann, Mark E. Samuels, Guy Van Vliet, Cheri Deal, Johnny Deladoëy
المصدر: Personalized Medicine. 11:63-78
مصطلحات موضوعية: Pharmacology, Sanger sequencing, symbols.namesake, Pediatric endocrinology, Research context, symbols, Molecular Medicine, General Medicine, Biology, Bioinformatics, Genome, Exome sequencing, DNA sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea9275b0aed1cfe8833e978c2fa6212dTest
https://doi.org/10.2217/pme.13.96Test -
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المؤلفون: Johnny Deladoëy, Mark E. Samuels, Guy Van Vliet, Jacek Majewski, Lysanne Patry, Caroline Hasselmann, Cheri Deal, Jean-Marc Vuissoz, Jeremy Schwartzentruber, Najmeh Alirezaie
المصدر: Journal of Genomes and Exomes. 2:19-30
مصطلحات موضوعية: Genetics, medicine.medical_treatment, Biology, Bioinformatics, Compound heterozygosity, Phenotype, Steroid hormone, medicine, Missense mutation, Isolated Glucocorticoid Deficiency, Gene, hormones, hormone substitutes, and hormone antagonists, Glucocorticoid, Exome sequencing, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::66bcf26db64a93634d6cabf71212bdb2Test
https://doi.org/10.4137/jge.s11378Test -
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المؤلفون: Cheri Deal, Alan G. Zimmermann, Gordon B. Cutler, Charmian A. Quigley, Christopher J. Child, Elena P. Shavrikova, Roland Pfäffle, Caroline Hasselmann, Werner F. Blum
المصدر: Hormone Research in Paediatrics. 79:283-292
مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Dwarfism, Physiology, Biology, Growth hormone deficiency, Sex Factors, Endocrinology, Septo-Optic Dysplasia, medicine, Humans, Prospective Studies, Child, Dwarfism, Pituitary, Prospective cohort study, medicine.diagnostic_test, Human Growth Hormone, Infant, Magnetic resonance imaging, Septo-optic dysplasia, equipment and supplies, medicine.disease, Magnetic Resonance Imaging, Ectopic Posterior Pituitary, Radiography, Phenotype, Child, Preschool, Pituitary Gland, Pediatrics, Perinatology and Child Health, Etiology, Female, Congenital Growth Hormone Deficiency, human activities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48fcc2abece3747893e58135ac22562dTest
https://doi.org/10.1159/000350829Test -
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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.139مصطلحات 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 -
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المؤلفون: Sébastien Barbarot, Annabel Maruani, Alexandra Potier, Juliette Mazereeuw-Hautier, Didier Bessis, Caroline Hasselmann, Gérard Lorette
المساهمون: CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Infectiologie et Santé Publique (UMR ISP), Institut National de la Recherche Agronomique (INRA)-Université de Tours (UT), Centre hospitalier universitaire de Nantes (CHU Nantes), Service de Dermatologie, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de pédiatrie, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), CHU Toulouse [Toulouse], Institut National de la Recherche Agronomique (INRA)-Université de Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)
المصدر: European Journal of Dermatology
European Journal of Dermatology, John Libbey Eurotext, 2013, 23 (2), pp.246-249. ⟨10.1684/ejd.2013.1967⟩مصطلحات موضوعية: Male, medicine.medical_specialty, Erythema, SURGERY, Sucralfate, Anti-Inflammatory Agents, Skin Cream, Dermatology, napkin, Jacquet dermatitis, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Diaper rash, Dermatologic agents, Medicine, Humans, papulonodular, diaper, dermatitis, Desonide, business.industry, Disease spectrum, Diapers, Infant, Infant, HIRSCHSPRUNG-DISEASE, medicine.disease, 3. Good health, granuloma gluteale, Diaper Rash, Female, Dermatologic Agents, medicine.symptom, business, Delayed healing, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b22df82110cbb36e77ec753f613c7acTest
https://pubmed.ncbi.nlm.nih.gov/23557992Test -
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المؤلفون: Sandra Pinard, Edgard Delvin, Jacek Majewski, Dardye Eugene, Michel Bouvier, Cheri Deal, Guy Van Vliet, Lysanne Patry, Caroline Hasselmann, Jeremy Schwartzentruber, Lucie Chouinard, Céline Huot, Nicole Sawyer, Nicole Gallo-Payet, Mark E. Samuels, Anissa Djemli, Fabien Magne, Johnny Deladoëy, Patricia René
المصدر: The Journal of clinical endocrinology and metabolism. 98(2)
مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, Heterozygote, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Biology, Compound heterozygosity, Biochemistry, Primary Adrenal Insufficiency, symbols.namesake, Endocrinology, Addison Disease, Adrenocorticotropic Hormone, Internal medicine, medicine, Humans, ACTH receptor, Glucocorticoids, Exome sequencing, Sanger sequencing, Biochemistry (medical), Homozygote, Infant, Null allele, Hypoglycemia, alpha-MSH, Child, Preschool, Mutation, symbols, Female, Melanocortin, hormones, hormone substitutes, and hormone antagonists, Glucocorticoid, Receptor, Melanocortin, Type 2, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1abfb8156a0c271311e2b4505ace5b03Test
https://pubmed.ncbi.nlm.nih.gov/23293326Test -
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المؤلفون: Sibylle Blanc, Thierry Bourrier, Franck Boralevi, Dominique Sabouraud-Leclerc, Nhân Pham-Thi, Laure Couderc, Antoine Deschildre, Guy Dutau, Marc Albertini, Antoine Tran, Lisa Giovannini-Chami, Sylvie Pauliat-Desbordes, Marie-Pierre Cordier-Collet, Clément Castella, Laurent Coffinet, Pascale Dumond, François Payot, Michel Moreigne, Monique Gouranton, Marie-Dominique Donnou, Carole Belloy, Yves Turc, Jamal Ghazouani, Michèle Terrisse, Pascaline Grué-Fertin, Claude Rouyer, Caroline Hasselmann, Christine Collet
المصدر: The Journal of Pediatrics. 174:211-217.e2
مصطلحات موضوعية: Male, Infant, Newborn, Sweating, Gustatory, Infant, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Child, Preschool, Outcome Assessment, Health Care, Pediatrics, Perinatology and Child Health, Humans, Female, Child, 030223 otorhinolaryngology, Referral and Consultation, Food Hypersensitivity, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78052210d9be1c78b80d33663268f670Test
https://doi.org/10.1016/j.jpeds.2016.03.070Test -
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المؤلفون: Samuels, Mark
المساهمون: Caroline Hasselmann, Johnny Deladoëy, Jean-Marc Vuissoz, Lysanne Patry, Najmeh Alirezaie, Jeremy Schwartzentruber, FORGE Canada Consortium, Cheri L. Deal, Guy Van Vliet, Jacek Majewski and Mark E. Samuels
مصطلحات موضوعية: Journal of Genomes and Exomes, Volume: 2013, Issue: 2
وصف الملف: PDF
