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1دورية أكاديمية
المؤلفون: Haşim Gezegen, İrem İlgezdi Kaya, Tuğba Kalaycı, Nermin Görkem Şirin, Birsen Karaman, Nerses Bebek, Betül Baykan
المصدر: Archives of Epilepsy, Vol 30, Iss 1, Pp 31-35 (2024)
مصطلحات موضوعية: non-convulsive status epilepticus, visual hallucinations, drug-resistance, karyotyping, ring 20, lacosamide, Neurology. Diseases of the nervous system, RC346-429, Medicine
وصف الملف: electronic resource
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2دورية 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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3دورية أكاديمية
المؤلفون: Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
المصدر: EMBO Molecular Medicine, Vol 15, Iss 11, Pp n/a-n/a (2023)
مصطلحات موضوعية: brittle hair phenotype, epithelial barrier function, mRNA splicing, skin differentiation, TTDN1, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Asuman Gedikbasi, Guven Toksoy, Meryem Karaca, Cagri Gulec, Mehmet Cihan Balci, Dilek Gunes, Seda Gunes, Ayca Dilruba Aslanger, Gokcen Unverengil, Birsen Karaman, Seher Basaran, Mubeccel Demirkol, Gulden Fatma Gokcay, Zehra Oya Uyguner
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: mitochondrial diseases, mtDNA, bi-genomic sequencing, exome sequencing, differential diagnosis, Genetics, QH426-470
وصف الملف: electronic resource
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5دورية 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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6دورية أكاديمية
المؤلفون: Seher Basaran, Recep Has, Ibrahim Halil Kalelioglu, Tugba Sarac Sivrikoz, Birsen Karaman, Melike Kirgiz, Tahir Dehgan, Tugba Kalayci, Bilge Ozsait Selcuk, Peter Miny, Atil Yuksel
المصدر: Genes, Vol 13, Iss 12, p 2389 (2022)
مصطلحات موضوعية: cell-free DNA, NIPT, rare chromosomal anomalies, mosaicism, positive predictive values, Genetics, QH426-470
وصف الملف: electronic resource
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7
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 -
8دورية 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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9دورية أكاديمية
المؤلفون: Murat Kaya, İlknur Suer, Şükrü Öztürk, Kıvanç ÇEFLE, Birsen Karaman, Şükrü Palanduz
المصدر: F1000Research, Vol 8 (2019)
وصف الملف: electronic resource
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10
المؤلفون: Özlem Anlaş, Akgün Ölmez, Birsen Karaman, Füsun Düzcan, Selçuk Yüksel, Funda Tümkaya, Gülseren Bağcı, Cavidan Nur Semerci Gündüz
مصطلحات موضوعية: Partial Monosomy 18q, Paracentric inversion, Short Arm, Array CGH, C-banding, Deletion, Phenotype, FISH, Genetics, Duplication-Deficiency, Pericentric-Inversion, Dicentric chromosome 18, Partial Trisomy 18p, Insertion, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44775954c4d013bbffa7cbf9014e6c8a
https://doi.org/10.1159/000527160