نتائج البحث - "Mariarosaria Lang-Muritano"

المصدر: Genetics in Medicine
Genetics in Medicine, 23 (8)
Genetics in Medicine, 23(8), 1474-1483. Nature Publishing Group
Genetics in Medicine, 23, 1474-1483
Genetics in Medicine, 23, 8, pp. 1474-1483

وصف الملف: application/application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544aa9be8e9d682d4d34739e4e2b6576Test
https://doi.org/10.1038/s41436-021-01158-1Test

5

NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice

المساهمون: CHU Lille, Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), FHU 1,000 Days for Health [Lille], Université de Lille, Université de Lausanne = University of Lausanne (UNIL), National and Kapodistrian University of Athens (NKUA), Lausanne University Hospital, Institute of Experimental Medicine [Budapest] (KOKI), Hungarian Academy of Sciences (MTA), Université de Genève = University of Geneva (UNIGE), Oxford Brookes University, Newcastle University [Newcastle], Poznan University of Medical Sciences [Poland] (PUMS), University of Applied Sciences of Eastern Switzerland (FHO), Universidade do Porto = University of Porto, Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Geneva University Hospitals and Geneva University, University Children’s Hospital Zurich, Bern University Hospital [Berne] (Inselspital), University of Bern, Hôpital Jeanne de Flandres, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Neurocentre Magendie : Physiopathologie de la Plasticité Neuronale (U1215 Inserm - UB), Université de Bordeaux (UB)-Institut François Magendie-Institut National de la Santé et de la Recherche Médicale (INSERM), Universidad de Córdoba = University of Córdoba [Córdoba], Instituto Maimonides de Investigación Biomédica de Cordoba (IMIBIC), Universidad de Córdoba = University of Córdoba [Córdoba]-Hospital Universitario Reina Sofía, Instituto de Salud Carlos III [Madrid] (ISC), University College of London [London] (UCL), Wolfson Institute for Biomedical Research (WIBR), Université de Clermont-Ferrand, ANR-17-CE16-0015,GRAND,Vieillissement et démence: un rôle hormonal?(2017), Prevot, Vincent

المصدر: Science Translational Medicine
Science Translational Medicine, 2022, 14 (665), pp.eabh2369. ⟨10.1126/scitranslmed.abh2369⟩
Science translational medicine, vol. 14, no. 665, pp. eabh2369

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4b9ba2a2f53ed6983bfc3208da7475dTest
https://www.hal.inserm.fr/inserm-03841246Test

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Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism

المؤلفون: Federico Santoni, James S Acierno, Zofia Kolesinska, Andrea Messina, Christian De Geyter, Richard Quinton, Georgios Papadakis, Jacques Young, Jenny Meylan, Lucia Bartoloni, Irene Halperin, Nelly Pitteloud, Jesse Rademaker, Nicolas J Niederländer, Cheng Xu, Deborah Bartholdi, Jérôme Bouligand, Mariarosaria Lang-Muritano

المصدر: Genetics in Medicine. 22:1759-1767

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38dee1548d25f32a012bb2a8319f4c8aTest
https://doi.org/10.1038/s41436-020-0896-0Test

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Characteristics of Growth in Children With Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency During Adrenarche and Beyond

المؤلفون: Mariarosaria Lang-Muritano, Tobias Troger, Christa E. Flück, Daniel Konrad, Grit Sommer, Beatrice Kuhlmann, Urs Zumsteg

المساهمون: University of Zurich

المصدر: The Journal of Clinical Endocrinology and Metabolism
Troger, Tobias; Sommer, Grit; Lang-Muritano, Mariarosaria; Konrad, Daniel; Kuhlmann, Beatrice; Zumsteg, Urs; Flück, Christa E. (2022). Characteristics of growth in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond. The journal of clinical endocrinology and metabolism, 107(2), e487-e499. Oxford University Press 10.1210/clinem/dgab701 <http://dx.doi.org/10.1210/clinem/dgab701Test>

مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Adolescent, Pediatric endocrinology, growth, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Context (language use), 610 Medicine & health, Biochemistry, medical, Child Development, Endocrinology, Age Determination by Skeleton, Internal medicine, medicine, Humans, Child, Online Only Articles, Glucocorticoids, Clinical Research Articles, Retrospective Studies, Adrenal Hyperplasia, Congenital, Dose-Response Relationship, Drug, biology, business.industry, Adrenarche, Biochemistry (medical), adrenarche, classic CAH, 21-Hydroxylase, Bone age, Body Height, final height prediction, Diabetes and Metabolism, 10036 Medical Clinic, Metabolic control analysis, Classic Congenital Adrenal Hyperplasia, Bone maturation, biology.protein, Female, Drug Monitoring, business, AcademicSubjects/MED00250