-
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
-
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
-
3
المؤلفون: Kortessa Sotiropoulou, Saniye Yumlu, Tomoko Hirano, Michael Maier, Abigail Loh, Peh Fern Ong, Onn Siong Yim, Chunping Liu, Emmanuel Vial, Umut Altunoğlu, Sheela Nampoothiri, Deepthi de Silva, Björn Fischer-Zirnsak, Hülya Kayserili, Poh San Lai, Oliver Dreesen, Kenji Kabashima, Uwe Kornak, Nathalie Escande-Beillard, Bruno Reversade
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::956ce1738a7036d6b9f3b9ce9250b07e
https://doi.org/10.1101/2023.05.24.23289766 -
4
المؤلفون: Esra Börklü, Umut Altunoğlu, Serpil Eraslan, Hülya Kayserili
المصدر: Molecular Syndromology. 13:206-211
مصطلحات موضوعية: Genetics, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::db62e0c638fee56d79fd45a3b23e0fa1
https://doi.org/10.1159/000519557 -
5
المؤلفون: Franziska Paul, Calista Ng, Umar Bin Mohamad Sahari, Shahriar Nafissi, Yalda Nilipoor, Ali Reza Tavasoli, Carine Bonnard, Pui-Mun Wong, Nasrinsadat Nabavizadeh, Umut Altunoğlu, Mehrdad A Estiar, Charles B Majoie, Hane Lee, Stanley F Nelson, Ziv Gan-Or, Guy A Rouleau, Paul P Van Veldhoven, Rami Massie, Raoul C Hennekam, Ariana Kariminejad, Bruno Reversade
المساهمون: Radiology and nuclear medicine, ACS - Atherosclerosis & ischemic syndromes, Reversade, Bruno, Nabavizadeh, Nasrinsadat, Altunoğlu, Umut (ORCID 0000-0002-3172-5368 & YÖK ID 126174), Paul, Franziska, Ng, Calista, Mohamad Sahari, Umar Bin, Nafissi, Shahriar, Nilipoor, Yalda, Tavasoli, Ali Reza, Bonnard, Carine, Wong, Pui-Mun, Estiar, Mehrdad A., Majoie, Charles B., Lee, Hane, Nelson, Stanley F., Gan-Or, Ziv, Rouleau, Guy A., Van Veldhoven, Paul P., Massie, Rami, Hennekam, Raoul C., Kariminejad, Ariana, School of Medicine, Radiology and Nuclear Medicine, ACS - Microcirculation, Amsterdam Neuroscience - Neurovascular Disorders, General Paediatrics, APH - Quality of Care
المصدر: Human Molecular Genetics, 31(21), 3729-3740. Oxford University Press
Paul, F, Ng, C, Mohamad Sahari, U B, Nafissi, S, Nilipoor, Y, Tavasoli, A R, Bonnard, C, Wong, P-M, Nabavizadeh, N, Altunoğlu, U, Estiar, M A, Majoie, C B, Lee, H, Nelson, S F, Gan-Or, Z, Rouleau, G A, van Veldhoven, P P, Massie, R, Hennekam, R C, Kariminejad, A & Reversade, B 2022, ' RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder ', Human Molecular Genetics, vol. 31, no. 21, pp. 3729-3740 . https://doi.org/10.1093/hmg/ddac120
Human molecular genetics
Human molecular genetics, 31(21), 3729-3740. Oxford University Pressمصطلحات موضوعية: Vesicular Transport Proteins, General Medicine, Endosomes, Biochemistry and molecular biology, Genetics and heredity, Protein Transport, Intellectual Disability, Mutation, Genetics, Humans, Alleles, Intellectual disability, Lysosomes, Protein transport, Molecular Biology, Genetics (clinical)
وصف الملف: pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b1dd1a7a9fd8d470fb2eff3d0d9131
https://research.vumc.nl/en/publications/0515c80a-a981-4e73-b15c-fb3d70568012 -
6
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 -
7
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
-
8
المؤلفون: Tuğçe Aksu Uzunhan, Biray Ertürk, Kürşad Aydın, Akif Ayaz, Umut Altunoğlu, Murat Hakkı Yarar, Alper Gezdirici, Dilara Füsun İçağasıoğlu, Ezgi Gökpınar İli, Bülent Uyanık, Metin Eser, Yaşar Bekir Kutbay, Yasemin Topçu, Betül Kılıç, Gonca Bektaş, Ayfer Arduç Akçay, Barış Ekici, Amet Chousein, Şahin Avcı, Atıl Yüksel, Hülya Kayserili
المساهمون: İÇAĞASIOĞLU, DİLARA FÜSUN, UYANIK, BÜLENT, Tıp Fakültesi
المصدر: Clinical Neurology and Neurosurgery. 224:107560
مصطلحات موضوعية: ARMC9, SURGERY, CLINICAL NEUROLOGY, Sağlık Bilimleri, Clinical Medicine (MED), Joubert Syndrome, KATNIP, Nöroloji (klinik), Nöroloji, Surgery Medicine Sciences, Joubert syndrome, Health Sciences, Klinik Tıp (MED), Molar tooth sign, Molar Tooth Sign, Cerrahi, KLİNİK NÖROLOJİ, Internal Medicine Sciences, Klinik Tıp, CERRAHİ, Dahili Tıp Bilimleri, General Medicine, CLINICAL MEDICINE, Tıp, Neurology, Cerrahi Tıp Bilimleri, Medicine, Surgery, Neurology (clinical), HYLS1
وصف الملف: application/pdf
-
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: İbrahim Kalelioğlu, Emircan Erturk, Atıl Yüksel, Umut Altunoğlu, Sahin Avci, Recep Has, Tuğba Saraç, Gürcan Türkyilmaz
المصدر: İstanbul Tıp Fakültesi Dergisi.
مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Split-Hand/Foot Malformation, Ectrodactyly, business.industry, medicine, business, medicine.disease
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::33eac6782499d21c31d7343cc965f443
https://doi.org/10.18017/iuitfd.375085