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المؤلفون: Miaoying Zhang, Zhangqian Zheng, Li Xi, Rong Ye, Jinwen Ni, Jing Wu, Zhuo Chang, Zhuhui Zhao, Xiaojing Li, Zhou Pei, Wei Lu, Chengjun Sun, Feihong Luo, Ruoqian Cheng
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-14 (2021)
BMC Medical Genomicsمصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, 030209 endocrinology & metabolism, Triple-A syndrome, QH426-470, Gastroenterology, Primary Adrenal Insufficiency, 03 medical and health sciences, Exon, 0302 clinical medicine, Addison Disease, Internal medicine, medicine, Genetics, Congenital adrenal hyperplasia, Triple A syndrome, X-linked adrenoleukodystrophy, Genetics (clinical), Exome sequencing, Genetic testing, medicine.diagnostic_test, business.industry, Virilization, medicine.disease, RC31-1245, 030104 developmental biology, Genetic diagnosis, Whole-exome sequencing, Etiology, medicine.symptom, Primary adrenal insufficiency, business, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5534b67343ebf798071afd8aab52b55Test
https://doaj.org/article/4a16a44451494286a10efbdc7806f2c2Test -
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المؤلفون: Beat Knechtle, Svetlana Paunovic, Wolfgang Koehler
المصدر: Praxis. 110:529-535
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, business.industry, General Medicine, Disease, medicine.disease, Primary Adrenal Insufficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Sexual dysfunction, Addison's disease, medicine, Adrenoleukodystrophy, medicine.symptom, Sexual function, business, 030217 neurology & neurosurgery, Adult form, Paresis
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::de1dbf6f371cb8d543768ffb83b6f2e8Test
https://doi.org/10.1024/1661-8157/a003674Test -
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المؤلفون: Carlos Rojas, Mauricio Burotto, Carlos Salinas, Suraj Samtani, Alex Renner
المصدر: Case Reports in Oncology
Case Reports in Oncology, Vol 13, Iss 2, Pp 621-626 (2020)مصطلحات موضوعية: 0301 basic medicine, business.industry, Immune checkpoint inhibitors, Case Report, Ipilimumab, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Bioinformatics, lcsh:RC254-282, Primary Adrenal Insufficiency, 03 medical and health sciences, Nivolumab, 030104 developmental biology, 0302 clinical medicine, Oncology, Immune-related adverse events, 030220 oncology & carcinogenesis, medicine, Primary adrenal insufficiency, business, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3548554e59ada4dea2d4ec7c28207a83Test
https://doi.org/10.1159/000507652Test -
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المؤلفون: Nejat Mahdieh, Ali Rabbani, Abdolah Didban, Bahareh Rabbani, Katayoun Heshmatzad
المصدر: International Journal of Endocrinology, Vol 2020 (2020)
مصطلحات موضوعية: 0301 basic medicine, endocrine system, Article Subject, Endocrinology, Diabetes and Metabolism, In silico, 030209 endocrinology & metabolism, Interactome, Diseases of the endocrine glands. Clinical endocrinology, law.invention, Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, law, medicine, Gene, Polymerase chain reaction, Genetics, Endocrine and Autonomic Systems, business.industry, Genetic disorder, RC648-665, medicine.disease, 030104 developmental biology, Familial Glucocorticoid Deficiency, business
وصف الملف: text/xhtml
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31c2581e46b05a196f3c2dfb1d0f7a56Test
https://doi.org/10.1155/2020/2190508Test -
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المصدر: Clinica Chimica Acta. 505:78-91
مصطلحات موضوعية: 0301 basic medicine, Hypothalamo-Hypophyseal System, Clinical Biochemistry, Pituitary-Adrenal System, Physiology, Biochemistry, Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Quality of life, Weight loss, Adrenal insufficiency, medicine, Humans, Adrenal gland, business.industry, Biochemistry (medical), Adrenal crisis, Chronic fatigue, General Medicine, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, 030220 oncology & carcinogenesis, medicine.symptom, Presentation (obstetrics), business, Adrenal Insufficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cbc611a108e05ac0318330b43d80016Test
https://doi.org/10.1016/j.cca.2020.01.029Test -
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المؤلفون: Christa E. Flück
المصدر: Current Opinion in Endocrine and Metabolic Research. 8:96-103
مصطلحات موضوعية: 0301 basic medicine, Genetics, Nicotinamide Nucleotide Transhydrogenase, business.industry, Endocrinology, Diabetes and Metabolism, DNA replication, Respiratory chain, 030209 endocrinology & metabolism, Lyase, medicine.disease, Sphingolipid, Primary Adrenal Insufficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Medicine, business, Gene, Nephrotic syndrome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::380e8cb6ac8e581ecb9cae2d3a311735Test
https://doi.org/10.1016/j.coemr.2019.08.005Test -
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المؤلفون: Olivier Chabre, Justine Cristante
المساهمون: CHU Grenoble
المصدر: Current Opinion in Endocrine and Metabolic Research
Current Opinion in Endocrine and Metabolic Research, Elsevier, 2019, 8, pp.88-95. ⟨10.1016/j.coemr.2019.08.001⟩مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Endocrinology, Diabetes and Metabolism, Urinary system, Urology, Adrenal crisis, 030209 endocrinology & metabolism, Hyperplasia, medicine.disease, Unilateral adrenalectomy, 3. Good health, Primary Adrenal Insufficiency, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Macronodular Adrenal Hyperplasia, medicine, Adrenal insufficiency, medicine.symptom, business, Subclinical infection
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b8be355ea2af03085a42ee403b3a664Test
https://doi.org/10.1016/j.coemr.2019.08.001Test -
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المؤلفون: Bruno Ferraz-de-Souza, Katrin Koehler, Elizabeth Crowne, Charles R. Buchanan, Nils Krone, Jeremy Allgrove, Edward T Andrews, P. K. Shah, N. Simon Thomas, Jenifer P. Suntharalingham, Tony Hulse, Angela Huebner, John C. Achermann, Adrian J. L. Clark, Peter E. Clayton, John Gregory, Tim Cheetham, Louise A. Metherell, Rathi Prasad, Avinaash Maharaj, M Guftar Shaikh, Peter C. Hindmarsh, Mehul T. Dattani, Catherine Roberts, Li F. Chan, Claire Hughes, Justin H Davies, Younus Qamar, Lin Lin, Federica Buonocore
المصدر: Journal of the Endocrine Society
مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Pediatrics, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Context (language use), Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Adrenal insufficiency, medicine, Congenital adrenal hyperplasia, genetics, Exome sequencing, Clinical Research Articles, Genetic testing, medicine.diagnostic_test, business.industry, Addison disease, medicine.disease, 030104 developmental biology, adrenal, NGS, Etiology, business, adrenal insufficiency, 030217 neurology & neurosurgery, AcademicSubjects/MED00250
وصف الملف: text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f105e0c59c3ea1cbc41e68b56ac8a909Test
http://europepmc.org/articles/PMC8266051Test -
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المؤلفون: Tulay Guran
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Male, 0301 basic medicine, Adrenal disorder, etiology, Endocrinology, Diabetes and Metabolism, Genetic counseling, 030209 endocrinology & metabolism, Review, Bioinformatics, Primary Adrenal Insufficiency, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Addison Disease, children, medicine, Humans, Congenital adrenal hyperplasia, Child, treatment, Adrenal gland, Adrenal cortex, business.industry, medicine.disease, 030104 developmental biology, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Etiology, Female, Primary adrenal insufficiency, business, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0795ec6633f3fe5286d96bd717ca2cb4Test
https://doi.org/10.4274/jcrpe.2017.s002Test -
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المؤلفون: Mathieu Nacher, Kinan Drak Alsibai, Audrey Valdes, Philippe Abboud, Antoine Adenis, Romain Blaizot, Denis Blanchet, Magalie Demar, Félix Djossou, Loïc Epelboin, Caroline Misslin, Balthazar Ntab, Nadia Sabbah, Pierre Couppié
المصدر: Frontiers in Cellular and Infection Microbiology
Frontiers in Cellular and Infection Microbiology, Vol 11 (2021)مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), Pediatrics, medicine.medical_specialty, Opportunistic infection, medicine.medical_treatment, 030106 microbiology, Immunology, lcsh:QR1-502, HIV Infections, 030209 endocrinology & metabolism, Microbiology, lcsh:Microbiology, Histoplasmosis, Primary Adrenal Insufficiency, 03 medical and health sciences, Cellular and Infection Microbiology, 0302 clinical medicine, Histoplasma, medicine, Adrenal insufficiency, Humans, Retrospective Studies, Advanced HIV, adrenal gland, AIDS-Related Opportunistic Infections, biology, business.industry, Adrenal gland, Immunosuppression, medicine.disease, biology.organism_classification, French Guiana, medicine.anatomical_structure, Infectious Diseases, Perspective, business, Low sodium
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2920e03f16e1290b051530bc684b4474Test