Haploinsufficiency of the DMRT Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual Development by Metin Eser, Akif Ayaz

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

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DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome Sequencing by Erdem Türk, Akif Ayaz, Ayhan Yüksek, Barış E. Süzek

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A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic management by Akif Ayaz, Asli Guner Ozturk Demir, Gurkan Ozturk, Mehmet Kocak

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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

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Refractory Burkitt Lymphoma Following Acute Lymphoblastic Leukemia in a Patient with Homozygous PMS2 Deficiency by Dildar Bahar Genç, Zeynep Yıldız Yıldırmak, Murat Elli, Akif Ayaz, Özlem Ton

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Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two... by Akif AYAZ, Alper GEZDIRICI, Elif YILMAZ GULEC, Özge OZALP, Abdullah Huseyin KOSEOGLU, Zeynep DOGRU, Sinem YALCINTEPE

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Familial mutation in Caffey disease with reduced penetrance: A case report by Özmert M A Özdemir, Hazal Tancer-Elçi, Aziz Polat, İnci Güçtürk, Emre Tepeli, Selcan Zeybek, Akif Ayaz

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Evaluation of Laboratory Findings, Clinical Features and Rates of Diagnosis of Patients Admitted to Outpatient Clinic of Pediatric Neurology with Neuromuscular Manifestations by Tuğçe Aksu Uzunhan, Biray Ertürk, Pelin Özyavuz Çubuk, Bülent Uyanık, Akif Ayaz, Onur Akan, Taha Reşid Özdemir

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Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish... by Gulten Ozturk, Akif Ayaz, Yasemin Topcu, Gülcan Akyuz, Olcay Unver, Ismail Hakk Akbeyaz, Gazanfer Ekinci, Dilsad Turkdogan

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