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1دورية أكاديمية
المؤلفون: Aslı Derya Kardelen, Adam Najaflı, Firdevs Baş, Birsen Karaman, Güven Toksoy, Şükran Poyrazoğlu, Şahin Avcı, Umut Altunoğlu, Zehra Yavaş Abalı, Ayşe Pınar Öztürk, Esin Karakılıç Özturan, Seher Başaran, Feyza Darendeliler, Z. Oya Uyguner
المصدر: JCRPE, Vol 15, Iss 4, Pp 338-347 (2023)
مصطلحات موضوعية: growth hormone deficiency, multiple pituitary hormone deficiency, prokr2, short stature, Pediatrics, RJ1-570, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
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2دورية 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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3دورية أكاديمية
المؤلفون: Burcu Sevinç Rüstemoğlu, Bedia Samanci, Fatih Tepgeç, Murat Kürtüncü, Umut Altunoglu, Tuncay Gündüz, Gözde Yeşil, Şahin Avcı, Hakan Gürvit, Başar Bilgiç, Güven Toksoy, Mefkure Eraksoy, Haşmet Hanağası, Zehra Oya Uyguner
المصدر: Türk Nöroloji Dergisi, Vol 27, Iss 3, Pp 240-247 (2021)
مصطلحات موضوعية: carasil, cadasil, autosomal dominant, recessive, notch3, htra1, Medicine, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Seher Basaran
المصدر: Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
مصطلحات موضوعية: OMIM 601803, Pallister-Killian syndrome, Somatic mosaicism, Mosaic tetrasomy 12p, Isochromosome 12p, Parental origin, Genetics, QH426-470
وصف الملف: electronic resource
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5
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 -
6
المؤلفون: Gurler Akpinar, Yonca Anik, Emek Uyur Yalçın, Hülya Maraş Genç, Murat Kasap, Eylul Ece Islek, Güven Toksoy, Oya Uyguner, Bülent Kara, Duran Ustek
المصدر: Molecular Syndromology. 13:12-22
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Candidate gene, Infection induced, Acute encephalopathy, Biology, medicine.disease, Pons, Genetics, medicine, Cerebellar atrophy, Cyst, Genetics (clinical), Calcification
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::dc952187a454682b0d3bdc2e42a151d0
https://doi.org/10.1159/000517541 -
7
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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8
المؤلفون: Aslı Karacan, Güven Toksoy, Zehra Uyguner, Birsen Karaman, Seher Başaran, Ayşe Bayrak
المصدر: Journal of Istanbul Faculty of Medicine / İstanbul Tıp Fakültesi Dergisi.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8280db6e0145806ba34a03754573a36a
https://doi.org/10.26650/iuitfd.1060030 -
9
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 -
10
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