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Balkan Medical Journal|December 9, 2017
Haploinsufficiency of the <i>DMRT</i> Gene Cluster in a Case with 46,XY Ovotesticular Disorder of Sexual DevelopmentMetin Eser, Akif Ayaz
Clinical Neurology and Neurosurgery|February 1, 2022
Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblingsTuğçe Aksu Uzunhan, Akif Ayaz
The Turkish Journal of Pediatrics|May 11, 2018
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP geneMetin Eser, Akif Ayaz, Gözde Yeşil
Turkish Journal of Medical Sciences|June 10, 2020
COVID-19: pathogenesis, genetic polymorphism, clinical features and laboratory findingsRecep Öztürk, Yeşim Taşova, Akif Ayaz
Brain & Development|January 29, 2022
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegiaAkif Ayaz, Tugce Aksu Uzunhan, Kursad Aydin
Clinical Neurology and Neurosurgery|August 27, 2022
First case with RANBP2 biallelic mutation and severe acute necrotizing encephalopathy phenotypeAkif Ayaz, Zeynep Doğru, Betül Kılıç, et al.
Peerj|September 20, 2023
DEVOUR: Deleterious Variants on Uncovered Regions in Whole-Exome SequencingErdem Türk, Akif Ayaz, Ayhan Yüksek, et al.
International Journal of Infectious Diseases : IJID : Official Publication of the International Society for Infectious Diseases|December 18, 2021
A pooled RT-PCR testing strategy for more efficient COVID-19 pandemic managementAkif Ayaz, Asli Guner Ozturk Demir, Gurkan Ozturk, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 21, 2022
Clinical and laboratory evaluation of children with congenital hyperinsulinism: a single center experienceSemra Gundogdu, Mustafa Ciftci, Enver Atay, et al.
Molecular Syndromology|December 5, 2024
A Novel <i>NDUFV2</i> Variant in an Asymptomatic Adolescent Girl with Progressive Cavitating LeukoencephalopathyEmine Caliskan, Safiye Gunes Sager, Akif Ayaz, et al.
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