-
1
المؤلفون: Susanna Wiegand, Keith Gottesdiener, Heiko Krude, Oliver Blankenstein, Ulrike Blume-Peytavi, Peter Kühnen, Annette Grüters, Lea L. Martini, Knut Mai, Karine Clément
المصدر: New England Journal of Medicine. 375:240-246
مصطلحات موضوعية: Adult, 0301 basic medicine, Agonist, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.drug_class, Blood Pressure, Pilot Projects, 030209 endocrinology & metabolism, Hyperphagia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, medicine, Humans, Obesity, Hydrocortisone, Setmelanotide, biology, business.industry, digestive, oral, and skin physiology, General Medicine, medicine.disease, Melanocortin 4 receptor, Pro-Opiomelanocortin Deficiency, Phenotype, 030104 developmental biology, Endocrinology, alpha-MSH, biology.protein, Receptor, Melanocortin, Type 4, Female, Melanocortin, business, Metabolism, Inborn Errors, hormones, hormone substitutes, and hormone antagonists, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f54de5d16542166c14e27363cc2e4fTest
https://doi.org/10.1056/nejmoa1512693Test -
2
المؤلفون: Annette Grüters, Aubène Lèger, Theo J. Visser, Mariella D'Alessandro, Hans van Toor, Graziella Pinto, David Goudie, Michel Polak, Willem Klootwijk, José Moreno
المساهمون: Internal Medicine
المصدر: New England Journal of Medicine, 358(17), 1811-1818. Massachussetts Medical Society
مصطلحات موضوعية: Adult, Male, Monoiodotyrosine, endocrine system, medicine.medical_specialty, endocrine system diseases, DNA Mutational Analysis, Molecular Sequence Data, Deiodinase, Mutation, Missense, DIO2, medicine.disease_cause, Iodide Peroxidase, Polymerase Chain Reaction, Open Reading Frames, Thyroid dyshormonogenesis, Hypothyroidism, Internal medicine, Humans, Medicine, Missense mutation, Amino Acid Sequence, Child, Frameshift Mutation, music, Sequence Deletion, Mutation, music.instrument, biology, Goiter, business.industry, Homozygote, Thyroid, General Medicine, Middle Aged, medicine.disease, Congenital hypothyroidism, Phenotype, medicine.anatomical_structure, Endocrinology, Iodotyrosine deiodinase, biology.protein, Female, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e1f0cf355c4cc81b00b32cf96fbb961Test
https://doi.org/10.1056/nejmoa0706819Test -
3
المصدر: New England Journal of Medicine. 336:1390-1391
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, endocrine system diseases, business.industry, Thyroid, General Medicine, medicine.disease, Congenital hypothyroidism, Thyrotropin receptor, Exon, medicine.anatomical_structure, Endocrinology, Internal medicine, medicine, Extracellular, Missense mutation, Euthyroid, business, Gene, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c4c458c4e42aac4e9701cefe338c2311Test
https://doi.org/10.1056/nejm199705083361914Test -
4
المؤلفون: H. Willgerodt, K. P. Liesenkötter, Annette Grüters
المصدر: New England Journal of Medicine. 333:1429-1430
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, Infant, Newborn, Thyrotropin, chemistry.chemical_element, Federal republic of germany, General Medicine, medicine.disease, Iodine, Iodine deficiency, humanities, Persistence (computer science), Berlin, Thyroxine, Iodine supplementation, Iodised salt, chemistry, Environmental health, medicine, Humans, Prospective Studies, business, human activities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7966149c3c0a2b335c0cfea4bdd9f169Test
https://doi.org/10.1056/nejm199511233332118Test