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

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

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Pseudohypoparathyroidism Type Ia with Normocalcemia by 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 by Burcu Yeter, Ayca Dilruba Aslanger, Gözde Yeşil, Nursel H. Elçioğlu

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

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Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: the necessity of psychological support by Ayse B. Kolemen, Enes Akyuz, Ali Toprak, Erdem Deveci, Gozde Yesil

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Mutation identification and prediction for severe cardiomyopathy in Alström syndrome, and review of the literature for cardiomyopathy by Savas Dedeoglu, Elif Dede, Funda Oztunc, Asuman Gedikbasi, Gozde Yesil, Reyhan Dedeoglu

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

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

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Clinical and Molecular Genetic Findings of Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy by Burcu Sevinç Rüstemoğlu, Bedia Samanci, Fatih Tepgeç, Murat Kürtüncü, Umut Altunoglu, Tuncay Gündüz, Gözde Yeşil, Şahin Avcı, Hakan Gürvit, Başar Bilgiç, Güven Toksoy, Mefkure Eraksoy, Haşmet Hanağası, Zehra Oya Uyguner

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Phenotypic continuum of NFU1‐related disorders by Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian

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