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1دورية أكاديمية
المؤلفون: Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler
المصدر: JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)
مصطلحات موضوعية: 46, xy disorders of sex development, 5α, -reductase deficiency, androgen insensitivity syndrome, androgen receptor gene mutations, srd5a2 gene mutations, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية أكاديمية
المصدر: Hematology, Transfusion and Cell Therapy, Vol 44, Iss , Pp S40-S41 (2022)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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المؤلفون: Neşe, Akcan, Oya, Uyguner, Firdevs, Baş, Umut, Altunoğlu, Güven, Toksoy, Birsen, Karaman, Şahin, Avcı, Zehra, Yavaş Abalı, Şükran, Poyrazoğlu, Agharza, Aghayev, Volkan, Karaman, Rüveyde, Bundak, Seher, Başaran, Feyza, Darendeliler
المصدر: Journal of clinical research in pediatric endocrinology. 14(2)
مصطلحات موضوعية: Male, Hypospadias, Steroid Metabolism, Inborn Errors, Disorder of Sex Development, 46,XY, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Receptors, Androgen, Mutation, Androgens, Humans, Membrane Proteins, Dihydrotestosterone, Female, Testosterone
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ede2954beb6cccd6834825dbced44999
https://pubmed.ncbi.nlm.nih.gov/35135181 -
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المؤلفون: Gül Yeşiltepe Mutlu, Serap Turan, Tulay Guran, Özlem Nalbantoğlu, Agharza Aghayev, Esra Döğer, Atilla Cayir, Jamala Mammadova, Busra Gurpinar Tosun, Mehmet Nuri Ozbek, Sare Betul Kaygusuz, Elvan Bayramoğlu, Yasemin Kendir Demirkol, Tuba Seven Menevse, Abdullah Bereket, Selda Ayça Altıncık
مصطلحات موضوعية: Sequence Variants, Aldosterone synthase, Male, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Disease, Type-1, Biochemistry, Gastroenterology, steroid hormone profile, Endocrinology, follow-up, Mechanisms, Aldosterone Synthase Deficiency, Disorders, biology, Prognosis, Cyp11b2, Fludrocortisone, catch-up growth, Female, Hypoaldosteronism, medicine.drug, Balance, medicine.medical_specialty, medicine.drug_class, Biosynthesis, Association, Congenital Adrenal-Hyperplasia, children, Internal medicine, medicine, Cytochrome P-450 CYP11B2, Humans, aldosterone synthase deficiency, business.industry, urogenital system, Biochemistry (medical), Infant, Newborn, Infant, medicine.disease, Discontinuation, Withholding Treatment, Mineralocorticoid, Case-Control Studies, Mutation, biology.protein, Age of onset, business, Follow-Up Studies
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36655e21d589de55133f1035a4f501dc
https://avesis.gazi.edu.tr/publication/details/f1b667a3-29be-4b4f-a085-a8f5b4324f10/oai -
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المؤلفون: Sahin Avci, Hilmi Apak, Hülya Kayserili, Seher Başaran, Agharza Aghayev, Umut Altunoglu, Ezgi Gizem Berkay, Beyhan Tüysüz, Gulendam Bagirova, Tiraje Celkan, Zehra Oya Uyguner, Güven Toksoy, Dilek Uludağ Alkaya, Birsen Karaman, Nilay Güneş, Yasemin Alanay
المساهمون: Acibadem University Dspace, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174), Avcı, Şahin, Toksoy, Güven, Uludağ Alkaya, Dilek, Bağırova, Gülendam, Aghayev, Agharza, Güneş, Nilay, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Tüysüz, Beyhan, Uyguner, Zehra O., Koç University Hospital, School of Medicine
المصدر: Molecular Syndromology
Mol Syndromolمصطلحات موضوعية: Cancer, Digenic, Fanconi anemia, Reverse mutation, Somatic mosaicism, Genetics, Medicine, Genetics and heredity, PALB2, BRIP1, Biology, medicine.disease, Compound heterozygosity, FANCA, FANCE, Genotype, medicine, Original Article, FANCL, Genetics (clinical)
وصف الملف: pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cc84018c67845613adfb1763022c24b
https://doi.org/10.1159/000509838 -
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7دورية أكاديميةCatch-up Growth and Discontinuation of Fludrocortisone Treatment in Aldosterone Synthase Deficiency.
المؤلفون: Tosun, Busra Gurpinar, Demirkol, Yasemin Kendir, Menevse, Tuba Seven, Kaygusuz, Sare Betul, Ozbek, Mehmet Nuri, Altincik, Selda Ayca, Mammadova, Jamala, Cayir, Atilla, Doger, Esra, Bayramoglu, Elvan, Nalbantoglu, Ozlem, Mutlu, Gul Yesiltepe, Aghayev, AghaRza, Turan, Serap, Bereket, Abdullah, Guran, Tulay
المصدر: Journal of Clinical Endocrinology & Metabolism; Jan2022, Vol. 107 Issue 1, pe106-e117, 12p
مصطلحات موضوعية: TERMINATION of treatment, LIQUID chromatography-mass spectrometry, ALDOSTERONE, PHYSIOLOGY, ADRENOCORTICAL hormones, NATALIZUMAB, WEIGHT gain
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8دورية أكاديمية
المؤلفون: Toksoy, Güven, Uludağ Alkaya, Dilek, Bagirova, Gülendam, Avcı, Şahin, Aghayev, Agharza, Günes, Nilay, Altunoğlu, Umut, Alanay, Yasemin, Başaran, Seher, Berkay, Ezgi G., Karaman, Birsen, Celkan, Tiraje T., Apak, Hilmi, Kayserili, Hülya, Tüysüz, Beyhan, Uyguner, Zehra O.
المصدر: Molecular Syndromology; 2020, Vol. 11 Issue 4, p183-196, 14p
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9دورية أكاديمية
المصدر: European Journal of Human Genetics. 30(Suppl 1):88-608
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10مورد إلكتروني
المصدر: Journal Of Clinical Research in Pediatric Endocrinology
مصطلحات الفهرس: Endocrinology and metabolism; Pediatrics, 46 XY disorders of sex development; 5a-reductase deficiency; Androgen insensitivity syndrome; Androgen receptor gene mutations; SRD5A2 gene mutations, Journal Article, text/academic publication
URL:
http://libdigitalcollections.ku.edu.tr/cdm/ref/collection/IR/id/10402 http://worldcat.org/oclc/1360593545/viewonline
Publisher version
Koç University Institutional Repository