Resultados de búsqueda - Gozde Yesil

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1? por Serhat Güler, Gözde Yeşil, Hasan Önal

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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene por Metin Eser, Akif Ayaz, Gözde Yeşil

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A Case with Laron Syndrome por İlker Tolga ÖZGEN, Esra KUTLU, Yaşar CESUR, Gözde YEŞİL

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Pseudohypoparathyroidism Type Ia with Normocalcemia por Esra KUTLU, İlker Tolga ÖZGEN, Yaşar CESUR, Gözde YEŞİL

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A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia por Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu

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Impact of a Missense Mutation in TRAPPC12 in Patients with Progressive Encephalopathy, Brain Atrophy and Spasticity Phenotype without Microcephaly and Epilepsy por Gözde Yeşil Sayın, Emrah Yücesan, Ayça Dilruba Aslanger, Beyza Göncü

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Early Diagnosis of Fanconi-Bickel Syndrome and a Novel Mutation inSLC2A2 Gene por Ezgi Çelikboya, Mehmet Şerif Cansever, Tanyel Zübarioğlu, Gözde Yeşil, Nurver Akıncı

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Evaluation of Visual Pathways in Children with Neuronal Ceroid Lipofuscinosis: Diffusion Tensor Imaging Findings por Hafize Otcu Temur, Bahar Atasoy, Gözde Yeşil Sayın, Akın İşcan, Alpay Alkan

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Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy por Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram

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Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation por Gonca Bektaş, Gözde Yeşil, Edibe Pembegül Yıldız, Nur Aydınlı, Mine Çalışkan, Meral Özmen

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Epilepsy Spectrum Associated with PRRT2 Variants: Case Presentations por Semı̇h Taşdelen, Gözde Yeşı̇l Sayın, Sı̇bel Aylı̇n Uğur İşerı̇, Nerses Bebek, Betül Baykan

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Clinical, Radiological, and Molecular Findings in Cases with TRAPPopathies por Ayça Dilruba Aslanger, Esma Sengenç, Emrah Yücesan, Beyza Göncü, Akın İşcan, Gözde Yeşil Sayın

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Clinical and molecular findings in 6 Turkish cases with Krabbe disease por Ayça Dilruba Aslanger, Esma Şengenç, Ayşe Betül Kölemen, Emine Demiral, Alpay Alkan, Akın İşcan, Gözde Yeşil

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Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness por Hasan Onal, Safa Bariş, Mine Ozdil, Gözde Yeşil, Gürkan Altun, Isa Ozyilmaz, Ahmet Aydin, Tiraje Celkan

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OncoRisk: a state-of-the-art web server for bridging the oncogenic databases and pan-cancer cohorts to the translational oncology por Xiya Song, Emre Green, Xinmeng Liao, Hasan Turkez, Gozde Yesil, Bayram Yuksel, Mathias Uhlen, Cheng Zhang, Adil Mardinoglu

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A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings por Melek Yıldız, Zerrin Önal, Gözde Yeşil, Tuğçe Göksu Kabil, Güven Toksoy, Şükran Poyrazoğlu, Firdevs Baş, Özlem Durmaz, Feyza Darendeliler

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ASSOCIATING eNOS GENE VARIANTS WITH COVID-19 SUSCEPTIBILITY IN THE TURKISH POPULATION por Naci Şenkal, Yasemin Oyacı, Timurhan Cebeci, Hilal Konyaoğlu, Murat Köse, Mustafa Önel, Alpay Medetalibeyoğlu, Gözde Yeşil Sayın, Mustafa Pehlivan, Sacide Pehlivan, Ümmühan İşoğlu Alkaç, Tufan Tükek

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CLINICAL AND MOLECULAR RESULTS OF SIX CASES WITH ROBERTS SYNDROME: REVIEW OF CASES FROM TURKIYE por Ayça Dilruba Aslanger, Tuğba Kalaycı, Esma Nur Konur, Çağrı Güleç, Şahin Avcı, Umut Altunoğlu, Volkan Karaman, Güven Toksoy, Birsen Karaman, Seher Başaran, Zehra Oya Uyguner, Gözde Yeşil Sayın

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