Expanding the genotypic and phenotypic landscapes of rhizomelic chondrodysplasia punctata type 3 (RCDP3) with two novel families, and a review of the literature
İli, Ezgi Gökpınar, Gezdirici, Alper, Di Pietro, Erminia, Yergeau, Christine, Braverman, Nancy
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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A Novel RNPC3 Gene Variant Expands the Phenotype in Patients with Congenital Hypopituitarism and Neuropathy
Yavas Abali, Zehra, Gokpinar Ili, Ezgi, Bas, Firdevs, Ulak Ozkan, Melis, Gulec, Çagrı, Toksoy, Guven, Ozturk, Ayşe Pinar, Karakilic Ozturan, Esin, Aslanger, Ayça, Caliskan, Mine, Yesil, Gozde, Poyrazoglu, Sukran, Darendeliler, Feyza, Oya Uyguner, Zehra
Published in Hormone research in paediatrics (2024)
Published in Hormone research in paediatrics (2024)
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Journal Article
Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa
Ertop, Pelin, Vural, Secil, Gökpınar Ili, Ezgi, Durmaz, Ceren D., Heper, Aylin O., McGrath, John A., Ilgın, Ruhi H., Boyvat, Ayse
Published in International journal of dermatology (01.07.2020)
Published in International journal of dermatology (01.07.2020)
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Journal Article
Phenotypic and molecular characterization of five patients with PIK3CA‐related overgrowth spectrum (PROS)
Gökpınar İli, Ezgi, Taşdelen, Elifcan, Durmaz, Ceren Damla, Altıner, Şule, Tuncalı, Timur, Martinez‐Glez, Victor, Karabulut, Halil Gürhan, Vural, Seçil, Ceylaner, Serdar, Acar, Mustafa Oğuz, Ilgın Ruhi, Hatice
Published in American journal of medical genetics. Part A (01.06.2022)
Published in American journal of medical genetics. Part A (01.06.2022)
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Journal Article
Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe, Ertürk, Biray, Aydın, Kürşad, Ayaz, Akif, Altunoğlu, Umut, Yarar, Murat Hakkı, Gezdirici, Alper, İçağasıoğlu, Dilara Füsun, Gökpınar İli, Ezgi, Uyanık, Bülent, Eser, Metin, Kutbay, Yaşar Bekir, Topçu, Yasemin, Kılıç, Betül, Bektaş, Gonca, Arduç Akçay, Ayfer, Ekici, Barış, Chousein, Amet, Avcı, Şahin, Yüksel, Atıl, Kayserili, Hülya
Published in Clinical neurology and neurosurgery (01.01.2023)
Published in Clinical neurology and neurosurgery (01.01.2023)
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Optimizing the transport and storage conditions of current Good Manufacturing Practice –grade human umbilical cord mesenchymal stromal cells for transplantation (HUC-HEART Trial)
CELIKKAN, FERDA TOPAL, MUNGAN, CEREN, SUCU, MERVE, ULUS, A. TULGA, CINAR, OZGUR, ILI, EZGI GOKPINAR, CAN, ALP
Published in Cytotherapy (Oxford, England) (01.01.2019)
Published in Cytotherapy (Oxford, England) (01.01.2019)
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Journal Article
Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant
Öktem, Ayşe, Özaydın, Berna, Gündüz, Kaan, Gökpınar İli, Ezgi, Şanlı, Hatice, Kaplan, İbrahim, Yürür Kutlay, Nüket
Published in Clinical and experimental dermatology (03.06.2024)
Published in Clinical and experimental dermatology (03.06.2024)
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Journal Article
A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport Syndrome
Yavaş, Cüneyd, Ozdemir Ozgenturk, Nehir, Dogan, Mustafa, Gezdirici, Alper, Keskin, Ece, Gokpınar İli, Ezgi, Dogan, Tunay, Celebi, Evrim, Bender, Onur, Un, Cemal
Published in Molecular syndromology (01.02.2024)
Published in Molecular syndromology (01.02.2024)
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Journal Article
New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis
Kalay Yildizhan, Incilay, Gökpınar İli, Ezgi, Onoufriadis, Alexandros, Kocyigit, Pelin, Kesidou, Evangelia, Simpson, Michael A, McGrath, John A, Kutlay, Nüket Yürür, Kundakci, Nihal
Published in Cytogenetic and genome research (2020)
Published in Cytogenetic and genome research (2020)
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Journal Article
Genotype Phenotype Correlation of A Case Having Chromosome 3 Imbalance
Taşdelen, Elifcan, Gökpınar İli, Ezgi, Altıner, Şule, Ceylan, Ahmet Cevdet, Tuncalı, Timur
Published in Ankara Ueniversitesi Tip Fakültesi mecmuasi (17.12.2021)
Published in Ankara Ueniversitesi Tip Fakültesi mecmuasi (17.12.2021)
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Perception and management of cancer predisposition in pediatric cancer centers: A European‐wide questionnaire‐based survey
Lazic, Jelena, Haas, Oskar A, Özbek, Ugur, Ripperger, Tim, Byrjalsen, Anna, te Kronnie, Geertruij, Sayitoğlu, Muge, Ng, Ozden Hatirnaz, Agaoglu, Nihat Bugra, Erbilgin, Yucel, Senturk, Gizem, Khodzhoev, Khusan, Sudutan, Tugce, Altıner, Sule, Ozdemir, Gul Nihal, Demirsoy, Ugur, Yilmaz, Ceren Damla, Ruml, Jelena, Yalcin, Koray, Ili, Ezgi Gökpinar, Pantic, Ivana, Vukovic, Milica, Mlynarski, Wojciech, Pastorczak, Agata, Bosch, Jutte van der Werff Ten, Schlegelberger, Brigitte, Slamova, Lucie, Loeffen, Jan, Garcia‐Orad, Africa, Metzler, Markus, Reismüller, Bettina
Published in Pediatric blood & cancer (01.05.2023)
Published in Pediatric blood & cancer (01.05.2023)
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Journal Article
Diagnostic Challenges in a Family with Dominant Dystrophic Epidermolysis Bullosa and Isolated Hereditary Nail Disorder: Paternal Gonosomal Mosaicism for COL7A1 Mutation and Maternal RSPO4 Variant
Öktem, Ayşe, Özaydın, Berna, Gündüz, Kaan, Gökpınar İli, Ezgi, Şanlı, Hatice, Kaplan, İbrahim, Yürür Kutlay, Nüket
Published in Clinical and experimental dermatology (03.06.2024)
Published in Clinical and experimental dermatology (03.06.2024)
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Journal Article
Whole-Exome Sequencing (WES) results of 50 patients with chronic kidney diseases: a perspective of Alport syndrome
Yavaş, Cüneyd, Ün, Cemal, Çelebi, Evrim, Gezdirici, Alper, Doğan, Mustafa, İli, Ezgi Gökpinar, Doğan, Tunay, Özgentürk, Nehir Özdemir
Published in Revista da Associação Médica Brasileira (1992) (01.09.2022)
Published in Revista da Associação Médica Brasileira (1992) (01.09.2022)
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