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

Relation: https://jcrpe.org/jvi.aspx?pdir=jcrpe&plng=eng&un=JCRPE-83702&look4=; https://doaj.org/toc/1308-5727; https://doaj.org/toc/1308-5735

URL الوصول: https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261

المؤلفون: AghaRza Aghayev, Khuraman Jafarova, Afsana Mammadova, Zenfira Mirzeyeva, Valeh Huseynov

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

Relation: http://www.sciencedirect.com/science/article/pii/S253113792201389X; https://doaj.org/toc/2531-1379

URL الوصول: https://doaj.org/article/13bee7411a78413ab1e216282b3328d2

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

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

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 Syndromol

مصطلحات 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

المؤلفون: Agharza Aghayev, Valeh Huseynov, Ramin Bayramli, Oya Uyguner Z.

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c8cfd85fcae894b3048bec630957691