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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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2
المؤلفون: G. Tutku Turgut, Ibrahim Halil Kalelioglu, Volkan Karaman, Tugba Sarac Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tugba Kalayci
المصدر: Molecular Syndromology. 14:152-157
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::00a17eeebae6b8f2d8f1029785b7a277
https://doi.org/10.1159/000527955 -
3
المؤلفون: Ayça Aslanger, Tuğba Kalaycı, Esma Konur, Çağrı Güleç, Şahin Avcı, Umut Altunoğlu, Volkan Karaman, Güven Toksoy, Birsen Karaman, Seher Başaran, Zehra Uyguner, Gözde Yeşil Sayın
المصدر: Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2399b31a81c199ac94d349e9d57b17f4
https://doi.org/10.26650/iuitfd.1130578 -
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المؤلفون: Tugba Sarac Sivrikoz, Tugba Kalayci, Leyli Senturk, Volkan Karaman, Ibrahim Halil Kalelioglu, Recep Has, Hulya Kayserili, Zehra Oya Uyguner, Gen Nishimura, Umut Altunoglu
المصدر: Prenatal diagnosisREFERENCES. 42(12)
مصطلحات موضوعية: Pregnancy, Prenatal Diagnosis, Micrognathism, Obstetrics and Gynecology, Humans, Female, Autopsy, Radiology, Genetics (clinical), Osteosclerosis, Ultrasonography, Prenatal, Retrospective Studies
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5
المؤلفون: Elif Yilmaz Gulec, Gozde Tutku Turgut, Alper Gezdirici, Volkan Karaman, Fatma Nihal Ozturk, Sahin Avci, Tugba Kalayci, Leyli Senturk, Akif Ayaz, Hulya Kayserili, Zehra Oya Uyguner, Umut Altunoğlu
المصدر: Clinical geneticsREFERENCES. 102(3)
مصطلحات موضوعية: Arthrogryposis, Turkey, Facies, Dysphagia, Crisponi/Cold-Induced Sweating Syndrome (CS/CISS), Autoantigens, Episodic Hyperthermia, Death, Sudden, Cold-Induced Sweating, Genetics, Humans, Hyperhidrosis, Trismus, CRLF1, KLHL7, Receptors, Cytokine, Hand Deformities, Congenital, Molecular Biology, Genetics (clinical)
وصف الملف: application/pdf
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6
المؤلفون: Hülya Kayserili, Dilek Uludağ Alkaya, Sukru Palanduz, Ercan Mihci, Nilay Güneş, Banu Güzel Nur, Elifcan Taşdelen, Güven Toksoy, Sukru Ozturk, Tugba Kalayci, Zehra Oya Uyguner, Zuhal Bayramoglu, Beyhan Tüysüz, Umut Altunoglu, Leyla Elkanova, Ezgi Gizem Berkay, Volkan Karaman, Kivanc Cefle
المصدر: American Journal of Medical Genetics Part A. 185:2488-2495
مصطلحات موضوعية: medicine.medical_specialty, Cleidocranial Dysplasia, business.industry, Scoliosis, medicine.disease, Gastroenterology, Short stature, Frontal Bossing, medicine.anatomical_structure, Skeletal disorder, Clavicle, Internal medicine, Genetics, medicine, Wormian bones, Allelic heterogeneity, medicine.symptom, business, Genetics (clinical)
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7
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: Melek Yildiz, Aysel Bayram, Firdevs Bas, Volkan Karaman, Guven Toksoy, Sukran Poyrazoglu, Feryal Gun Soysal, Semen Onder, Zehra Oya Uyguner, Feyza Darendeliler
المصدر: European journal of endocrinology. 187(1)
مصطلحات موضوعية: Male, Ovarian Neoplasms, Endocrinology, Adrenal Hyperplasia, Congenital, Endocrinology, Diabetes and Metabolism, Adrenal Rest Tumor, Humans, Female, General Medicine, Castration, Steroid 21-Hydroxylase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23f9cb2590a1c1c8421d3cadcda913e6
https://pubmed.ncbi.nlm.nih.gov/35550562 -
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المؤلفون: Volkan Karaman, Feyza Darendeliler, Berrin Ergun-Longmire, Zehra Oya Uyguner, Rüveyde Bundak, Birsen Karaman, Seher Başaran, Zehra Yavas Abali, Sukran Poyrazoglu, Güven Toksoy, Sahin Avci, Umut Altunoglu, Firdevs Bas
المصدر: The Journal of steroid biochemistry and molecular biology. 181
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Turkish population, Adolescent, Turkey, Endocrinology, Diabetes and Metabolism, Genetic counseling, Clinical Biochemistry, DNA Mutational Analysis, 030209 endocrinology & metabolism, Consanguinity, Biochemistry, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Endocrinology, Genotype-phenotype distinction, Internal medicine, medicine, Prevalence, Humans, Congenital adrenal hyperplasia, Child, Molecular Biology, Genetic Association Studies, Adrenal Hyperplasia, Congenital, business.industry, Infant, Newborn, Infant, Cell Biology, medicine.disease, 030104 developmental biology, Gynecomastia, Case-Control Studies, Child, Preschool, Mutation, Molecular Medicine, Steroid 11-beta-Hydroxylase, Allelic heterogeneity, Female, business, Testicular microlithiasis
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10
المؤلفون: Muge Olgac, Volkan Karaman, Zehra Oya Uyguner, Semra Demir, Bahattin Çolakoğlu, Aslı Gelincik, Suna Büyüköztürk, Güven Toksoy
المصدر: Annals of Allergy, Asthma & Immunology. 114:154-156
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Immunology, Mutation (genetic algorithm), Immunology and Allergy, Medicine, Idiopathic angioedema, business, Dermatology