Ayberk Türkyilmaz (Ayberk Turkyilmaz, Ayberk Türkyılmaz)

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 17

Top Topics

Duchenne Muscular Dystrophy

Intellectual Disability

Magnetic Resonance

Top Venues

American journal of medical genetics. Part A

International ophthalmology

Turkish journal of medical sciences

This page only lists publications with an associated author ORCID identifier.

Publications

Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyilmaz
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. American journal of medical genetics. Part A 194 (5) (2024)
Ayberk Türkyilmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Düzkalır, Metin Eser, Yasemin Akın
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort. Neurogenetics 25 (2) (2024)
Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyilmaz
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. American journal of medical genetics. Part A (2024)
Oguzhan Demir, Kubra Adanur Saglam, Mustafa Yilmaz, Tuna Apuhan, Alper Han Cebi, Ayberk Türkyilmaz
Secondary findings in genes related to cancer phenotypes in Turkish exome sequencing data from 2020 individuals. American journal of medical genetics. Part A (2024)
Ayberk Türkyilmaz, Safiye Güneş Sağer, Emine Tekin, Kerem Teralı, Hanife Düzkalır, Metin Eser, Yasemin Akın
Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort. Neurogenetics (2024)
Fatma Dursun, Ihsan Turan, Eda Çelebi Bitkin, Elvan Bayramoğlu, Atilla Çayır, Senay Savas Erdeve, Esra Deniz Papatya Çakır, Emine Çamtosun, Semine Özdemir Dilek, Heves Kirmizibekmez, Metin Eser, Ayberk Türkyilmaz, Gülay Karagüzel
Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal-recessive hypophosphataemic rickets type 2. Clinical endocrinology (2024)
Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyilmaz
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. American journal of medical genetics. Part A 194 (5) (2024)
Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyilmaz
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. American journal of medical genetics. Part A 194 (5) (2024)
Mustafa Yılmaz, Tülay Kamaşak, Kerem Teralı, Alper Han Çebi, Ayberk Türkyilmaz
The first Turkish family with a novel biallelic missense variant of the ALKBH8 gene: A study on the clinical and variant spectrum of ALKBH8-related intellectual developmental disorders. American journal of medical genetics. Part A 194 (5) (2024)
Ayberk Türkyilmaz, Ayşin Tuba Kaplan, Sibel Öskan Yalçın, Safiye Güneş Sağer, Şaban Şimşek
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing. International ophthalmology (2023)
Ayberk Türkyilmaz, Emine Tekin, Oğuzhan Yaralı, Alper Han Çebi
SCN1A Pathogenic Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome. Epileptic disorders : international epilepsy journal with videotape (2023)
Hanife Gülden Düzkalir, Barış Genç, Safiye Gunes Sager, Ayberk Türkyilmaz, Hediye Pınar Gunbey
Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES). Turkish journal of medical sciences 53 (6) (2023)
Hanife Gülden Düzkalir, Barış Genç, Safiye Gunes Sager, Ayberk Türkyilmaz, Hediye Pınar Gunbey
Microstructural evaluation of the brain with advanced magnetic resonance imaging techniques in cases of electrical status epilepticus during sleep (ESES). Turkish journal of medical sciences 53 (6) (2023)
Ayberk Türkyilmaz, Ceren Alavanda, Esra Arslan Ates, Bilgen Bilge Geckinli, Hamza Polat, Mehmet Gokcu, Taner Karakaya, Alper Han Cebi, Mehmet Ali Soylemez, Ahmet İlter Guney, Pinar Ata, Ahmet Arman
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency. Journal of assisted reproduction and genetics 39 (3) (2022)
Ayşin Tuba Kaplan, Sibel Oskan Yalcın, Safiye Gunes Sager, Ayberk Türkyilmaz, Rahşan İnan
Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease. International ophthalmology (2022)
Ayberk Türkyilmaz, Atilla Cayir, Oguzhan Yarali, Erdal Kurnaz, Emine Kartal Baykan, Esra Arslan Ates, Huseyin Demirbilek
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism. Journal of pediatric endocrinology & metabolism : JPEM 34 (6) (2021)
Ayberk Türkyilmaz, Bilgen Bilge Geckinli, Ceren Alavanda, Esra Arslan Ates, Esra Esim Buyukbayrak, Sirin Funda Eren, Ahmet Arman
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature. Genetic testing and molecular biomarkers 25 (6) (2021)