المؤلفون: Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı, Victor Martinez‐Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar, Hatice Ilgın Ruhi

المصدر: American Journal of Medical Genetics Part A. 188:1792-1800

مصطلحات موضوعية: Phosphatidylinositol 3-Kinases, Phenotype, Class I Phosphatidylinositol 3-Kinases, Mutation, Genetics, Humans, Abnormalities, Multiple, Telangiectasis, Skin Diseases, Vascular, Megalencephaly, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb9b54cafb9f1567c4af86bd2e20368
https://doi.org/10.1002/ajmg.a.62709

المؤلفون: Aslıhan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman, Atıl Bisgin, Tulin Cora, Hatice Ilgın Ruhi, Mahmut Cerkez Ergoren, Bilgen Bilge Geçkinli, Sebnem Ozemri Sag, Hilmi Erdem Gözden, Ozlem Oz, Zuhal Mert Altıntaş, Sinem Yalcıntepe, Adem Keskin, Ayşegül Yabacı Tak, Şeyma Aktaş Paskal, Uğur Fahri Yürekli, Mercan Demirtas, Emine Unal Evren, Abdullah Hanta, Müşerref Başdemirci, Kaya Suer, Burhan Balta, Nadir Kocak, Halil Gürhan Karabulut, Havva Cobanogulları, Esra Arslan Ateş, Sevcan Tuğ Bozdoğan, Damla Eker, Sadiye Ekinci, Süleyman Nergiz, Timur Tuncalı, Serap Yagbasan, Ceren Alavanda, Nuket Yurur Kutlay, Hakan Evren, Murat Erdoğan, Sule Altıner, Tamer Sanlidag, Gizem Akıncı Gonen, Arzu Vicdan, Nazan Eras, Hatice Koçak Eker, Ozgür Balasar, Gulten Tuncel, Munis Dundar, Hakan Gurkan, Sehime Gulsun Temel

المساهمون: Kiraz A., Sezer O., ALEMDAR A., Canbek S., Duman N., BİŞGİN A., Cora T., Ruhi H. I., Ergoren M. C., GEÇKİNLİ B. B., et al., YABACI TAK, AYŞEGÜL

مصطلحات موضوعية: Viroloji, Temel Tıp Bilimleri, Life Sciences (LIFE), VIROLOGY, Sağlık Bilimleri, Fundamental Medical Sciences, IMMUNOLOGY, cOVID‐19, Yaşam Bilimleri, Health Sciences, thrombophilia, Microbiology and Clinical Microbiology, İmmünoloji, Factor V Leiden, Temel Bilimler, Life Sciences, COVID-19, INFECTIOUS DISEASES, Tıp, VİROLOJİ, Bulaşıcı hastalıklar, Mikrobiyoloji ve Klinik Mikrobiyoloji, Yaşam Bilimleri (LIFE), BULAŞICI HASTALIKLAR, Medicine, Prothrombin, Natural Sciences

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a2db7faa6ca88f32d5fd353b005ee
https://hdl.handle.net/11424/287280

المؤلفون: Gareth Evans, Timur Tuncalı, Miriam J. Smith, Pelin Ertop, Ceren D. Durmaz, Bengü Nisa Akay

المصدر: Cytogenetic and Genome Research. 154:57-61

مصطلحات موضوعية: 0301 basic medicine, Pathology, medicine.medical_specialty, Macrocephaly, Nevoid basal-cell carcinoma syndrome, Biology, medicine.disease, Frameshift mutation, Falx cerebri, PTCH2, stomatognathic diseases, 03 medical and health sciences, Frontal Bossing, 030104 developmental biology, 0302 clinical medicine, PTCH1, 030220 oncology & carcinogenesis, Genetics, medicine, medicine.symptom, Keratocyst, Molecular Biology, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5771581a945689e7f87cc5e7bc76fa55
https://doi.org/10.1159/000487747

المؤلفون: Ceren D, Durmaz, Gareth, Evans, Miriam J, Smith, Pelin, Ertop, Bengü N, Akay, Timur, Tuncalı

المصدر: Cytogenetic and genome research. 154(2)

مصطلحات موضوعية: Male, Patched-1 Receptor, Humans, Infant, Basal Cell Nevus Syndrome, Exons, Sequence Analysis, DNA, Cerebellar Neoplasms, Frameshift Mutation, Congenital Abnormalities, Medulloblastoma, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::a81cb2e62f97e80f34f46693203f6260
https://pubmed.ncbi.nlm.nih.gov/29544218

المؤلفون: Şule Mine Bakanay, Gülşah Kaygusuz, Pervin Topçuoğlu, Şule Şengül, Timur Tunçalı, Kenan Keven, Işınsu Kuzu, Akın Uysal, Mutlu Arat

المصدر: Turkish Journal of Hematology, Vol 31, Iss 1, Pp 79-83 (2014)

مصطلحات موضوعية: renal transplantation, post-transplant lymphoproliferative disease, lymphoma, immunosuppression, rituximab, abnormal karyotype, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://jag.journalagent.com/z4/download_fulltext.asp?pdir=tjh&un=TJH-69335; https://doaj.org/toc/1308-5263

URL الوصول: https://doaj.org/article/04b8ce8475154653af57a7dd70a1a9c0