Get started
Author

Ayberk Türkyılmaz

Observed names: A Turkyilmaz, A Türkyilmaz, A Türkyılmaz, A. Türkyılmaz, AYBERK TÜRKYILMAZ, Ayberk TURKYILMAZ, Ayberk Turkyilmaz, Ayberk Türkyilmaz, Turkyilmaz, Ayberk, TÜRKYILMAZ, AYBERK, Türkyılmaz A, Türkyılmaz, A., Türkyılmaz, Ayberk
Observed institutions: Dicle University, Karadeniz Technical University, Istanbul Yeni Yüzyıl University, İstanbul Gelişim Üniversitesi, Erzurum Regional Training and Research Hospital, Mustafa Kemal University, Marmara University, Adnan Menderes University
ORCID: 0000-0001-9647-8970
Observed ORCID: 0000-0001-9647-8970
OpenAlex ID: A5064377512
Genotypic Sex and Severity of the Disease Determine the Time of Clinical Presentation in Steroid 17α-Hydroxylase/17,20-Lyase Deficiency
2020 · Erdal Kurnaz, Emine Kartal Baykan, et al. · Hormone Research in Paediatrics · 44
Secondary findings in 622 Turkish clinical exome sequencing data
2021 · Esra Arslan Ateş, Ayberk Türkyilmaz, et al. · Journal of Human Genetics · 19
Chanarin-Dorfman syndrome
2018 · Semih Kalyon, Yasemin Gökden, et al. · The Turkish Journal of Gastroenterology · 18
PDF
Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency
2022 · Ayberk Turkyilmaz, Ceren Alavanda, et al. · Journal of Assisted Reproduction and Genetics · 17
Meckel-Gruber Syndrome: Clinical and Molecular Genetic Profiles in Two Fetuses and Review of the Current Literature
2021 · Ayberk Turkyilmaz, Bilgen Bilge Geckinli, et al. · Genetic Testing and Molecular Biomarkers · 13
Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey
2021 · Emine Kartal Baykan, Ayberk Türkyılmaz · Journal of Clinical Research in Pediatric Endocrinology · 13
PDF
Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
2023 · Nalan Yakici, Alexandra Y. Kreins, et al. · Clinical Immunology · 12
HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies
2021 · Gunes Sager, Ayberk Turkyilmaz, et al. · Acta Neurologica Belgica · 12
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia
2021 · Ayberk Turkyilmaz, Erdal Kurnaz, et al. · Metabolic Syndrome and Related Disorders · 12
Low DHEAS Concentration in a Girl Presenting with Short Stature and Premature Pubarche: A Novel PAPSS2 Gene Mutation
2019 · Mehmet Eltan, Zehra Yavas Abali, et al. · Hormone Research in Paediatrics · 12
Evaluation of long-term neurocognitive functions in patients with epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS)/epileptic encephalopathy with spike-and-wave activation in sleep (EE-SWAS)
2023 · Gunes Sager, Gulnur Takis, et al. · Neurophysiologie Clinique · 11
Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients
2022 · Esra ARSLAN ATES, Ayberk TURKYILMAZ, et al. · Medeniyet Medical Journal · 11
PDF
Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene
2021 · Ayberk Türkyılmaz, Safiye Gunes Sager · Molecular Syndromology · 10
Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b
2021 · Ayse Ozden, Hakan Doneray, et al. · Endocrine · 10
A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep
2022 · Safiye Gunes Sager, Ayberk Turkyilmaz, et al. · Brain and Development · 8
Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in ASPM and WDR62 Genes
2022 · Hilmi Bolat, Safiye G. Sağer, et al. · Molecular Syndromology · 8
A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature
2019 · Erdal Kurnaz, Ayberk Türkyılmaz, et al. · Journal of Pediatric Endocrinology and Metabolism · 8
A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy
2019 · Dilsad Turkdogan, Ayberk Turkyilmaz, et al. · Seizure · 8
PDF
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
2024 · Mustafa Yılmaz, Tülay Kamaşak, et al. · American Journal of Medical Genetics Part A · 7
PDF
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism
2021 · Ayberk Turkyilmaz, Atilla Cayir, et al. · Journal of Pediatric Endocrinology and Metabolism · 7
Angiotensin-converting enzyme gene insertion/deletion polymorphism with metabolic syndrome in Turkish patients.
2013 · S Simsek, S Tekes, et al. · PubMed · 7
Analysis of TSC1 and TSC2 genes and evaluation of phenotypic correlations with tuberous sclerosis
2024 · Metin Eser, Gulam Hekimoglu, et al. · Molecular Genetics and Genomics · 6
A Genetic Approach in the Evaluation of Short Stature
2023 · Ayberk Turkyilmaz, Ayse Sena Donmez, et al. · Eurasian Journal of Medicine · 6
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease
2022 · Taner Karakaya, Ayberk Turkyilmaz, et al. · Neurogenetics · 6
Array-Based Comparative Genomic Hybridization Analysis in Children with Developmental Delay/Intellectual Disability
2021 · A Türkyılmaz, BB Geckinli, et al. · Balkan Journal of Medical Genetics · 6
Works count: 125
Citation count: 433
H-index: 11
I10-index: 14
Year
Topic
Type