Dr. Öğr. Üyesi Ayça Kocaağa

Diagnostic pitfalls in Gitelman syndrome: interpreting a single SLC12A3 variant

Cukurova Medical Journal, 2026

DOI 10.17826/cumj.1861505 Açık erişimli tam metinKaynak: ORCID

Clinical and molecular spectrum of TSC1 and TSC2 mutations in pediatric tuberous sclerosis complex: Report of five novel variants

Neurology Asia, 2026

DOI 10.54029/2026jwy Açık erişimli tam metinKaynak: ORCID

Multigene panel testing reveals the spectrum of non-BRCA germline variants in BRCA1/2-negative breast, ovarian, and prostate cancer patients from a Turkish cohort

Clinical and Translational Oncology, 2026

DOI 10.1007/s12094-026-04258-z PMID 41697532 Kaynak: ORCID

Comprehensive Genetic Analysis of Non-Obstructive Male Infertility Using Combined Next-Generation Sequencing and Multiplex Ligation-Probe Amplification

Bratislava Medical Journal, 2026

DOI 10.1007/s44411-026-00505-5 Açık erişimli tam metinKaynak: Scopus

Hypomagnesemia as a primary clue for the diagnosis of 17q12 deletion syndrome associated with spinal syringomyelia: a case report

The Turkish Journal of Pediatrics, 2025

DOI 10.24953/turkjpediatr.2025.6246 PMID 41636192 Açık erişimli tam metinKaynak: ORCID

Chromosomal abnormalities of embryos from sporadic and recurrent miscarriages: a tertiary center experience

Molecular Biology Reports, 2025

DOI 10.1007/s11033-025-10557-5 PMID 40439801 1 atıf (Scopus) Kaynak: ORCID

COMPARATIVE EVALUATION OF FXIII VAL34LEU AND PAI 4G/5G POLYMORPHISMS IN WOMEN WITH RECURRENT PREGNANCY LOSS AND SPONTANEOUS MISCARRIAGE

Eskisehir Medical Journal, Eskisehir City Hospital, 2025

DOI 10.48176/esmj.2025.198 Açık erişimli tam metinKaynak: ORCID

Investigation of the relationship between venous thromboembolism and thrombophilic variants

Revista da Associação Médica Brasileira, 2025

DOI 10.1590/1806-9282.20241171 PMID 40105557 Açık erişimli tam metinKaynak: ORCID

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review

Frontiers in Neurology, 2025

DOI 10.3389/fneur.2025.1623314 PMID 41245872 2 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

A review of the immunogenetics of Stevens-Johnson syndrome and toxic epidermal necrolysis

Global Medical Genetics, 2025

DOI 10.1016/j.gmg.2025.100054 PMID 40469883 2 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Case report: Pai syndrome with multiple ventricular septal defect and without cleft palate

Clinical Neurology and Neurosurgery, 2024

DOI 10.1016/j.clineuro.2023.108045 PMID 38091702 Kaynak: Scopus

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: A retrospective review

2024

DOI 10.1101/2024.08.31.24312796 Açık erişimli tam metinKaynak: ORCID

The genetic spectrum of polycystic kidney disease in children

Revista da Associacao Medica Brasileira (1992), 2023

DOI 10.1590/1806-9282.20230334 PMID 37909612 1 atıf (Europe PMC) Açık erişimli tam metinKaynak: Europe PMC

Molecular profiling of BRCA1 and BRCA2 genes in Turkish patients with early-onset breast cancer

Egyptian Journal of Medical Human Genetics, 2023

DOI 10.1186/s43042-023-00442-w Açık erişimli tam metinKaynak: OpenAlex

First report of tethered cord syndrome in a patient with Verheij syndrome

Ophthalmic Genetics, 2023

DOI 10.1080/13816810.2022.2121968 PMID 36134573 3 atıf (Europe PMC) Kaynak: ORCID

De novo STXBP1 mutation in a child with hypotonia, intellectual disability, tremor and without epilepsy

Neurology Asia, 2023

DOI 10.54029/2023mru Açık erişimli tam metinKaynak: ORCID

Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study

Molecular Biology Reports, 2023

DOI 10.1007/s11033-022-08148-9 PMID 36462087 Kaynak: ORCID

Identification of Novel Gene Variants in Children With Drug-Resistant Epilepsy: Expanding the Genetic Spectrum

Pediatric Neurology, 2023

DOI 10.1016/j.pediatrneurol.2022.11.005 PMID 36493596 10 atıf (Scopus) Kaynak: ORCID

A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023

DOI 10.1186/s41983-023-00608-8 1 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

Evaluation of Molecular and Clinical Findings in Children With Neurofibromatosis Type 1: Identification of 15 Novel Variants

Pediatric Neurology, 2023

DOI 10.1016/j.pediatrneurol.2023.08.036 PMID 37806041 7 atıf (Scopus) Kaynak: Scopus

A rare case of Coffin–Lowry syndrome accompanied by a copper-beaten skull appearance

Neurology Asia, 2023

DOI 10.54029/2023jyx 1 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

INCIDENCE AND SPECTRUM OF THROMBOPHILIA IN WOMEN WITH RECURRENT PREGNANCY LOSS: A RETROSPECTIVE STUDY

Eskisehir Medical Journal Eskisehir City Hospital, 2023

DOI 10.48176/esmj.2023.117 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Association of NOD1 and NOD2 Polymorphisms With Susceptibility to Subacute Sclerosing Panencephalitis

Journal of Child Neurology, 2023

DOI 10.1177/08830738221144081 PMID 36544356 2 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing

Revista da Associação Médica Brasileira, 2023

DOI 10.1590/1806-9282.20221073 PMID 37222315 4 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

The Novel Homozygous ADCY6 c.413G>A; p.R138H gene Variant Associated with Lethal Congenital Contracture Syndrome 8 in a Female Patient with Epilepsy and Pachygyria

Hong Kong Journal of Paediatrics, 2023

1 atıf (Scopus) Kaynak: Scopus

A Novel Mutation in the TBC1D20 Gene with Associated Warburg Micro Syndrome

Batı Karadeniz Tıp Dergisi, 2022

DOI 10.29058/mjwbs.1024327 Açık erişimli tam metinKaynak: ORCID

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

Global Medical Genetics, 2022

DOI 10.1055/s-0042-1743261 PMID 35707779 3 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

Koolen-de Vries syndrome: A de novo missense KANSL1 variant

Clinical Neurology and Neurosurgery, 2022

DOI 10.1016/j.clineuro.2022.107444 PMID 36150256 2 atıf (Scopus) Kaynak: Scopus

Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome

Indian Journal of Ophthalmology, 2022

DOI 10.4103/ijo.ijo_1061_22 PMID 35791240 3 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

A novel splice-site variant in the MCPH1 gene manifests with autosomal recessive primary microcephaly

Neurology Asia, 2022

DOI 10.54029/2022vtk Açık erişimli tam metinKaynak: Scopus

The pattern of chromosomal abnormalities in recurrent miscarriages: a single center retrospective study

Annals of Saudi Medicine, 2022

DOI 10.5144/0256-4947.2022.385 PMID 36444924 11 atıf (OpenAlex) Açık erişimli tam metinKaynak: OpenAlex

Identification of Novel Mutations in Children with Hereditary Spherocytosis by Targeted Exome Sequencing: A Single Center Experience

Batı Karadeniz Tıp Dergisi, 2022

DOI 10.29058/mjwbs.1200958 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

Diagnosis and genetic analysis of polycythemia in children and a novel EPAS1 gene mutation

Pediatrics & Neonatology, 2022

DOI 10.1016/j.pedneo.2022.06.006 PMID 36002380 5 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

Identification of A Novel Hemizygous SLC16A2 Nonsense Mutation in Allen-Herndon-Dudley Syndrome

Eskisehir Medical Journal, Eskisehir City Hospital, 2022

DOI 10.48176/esmj.2022.74 Açık erişimli tam metinKaynak: ORCID

The immunogenetics of subacute sclerosing panencephalitis: A comprehensive review

Karnataka Pediatric Journal, 2022

DOI 10.25259/kpj_39_2021 3 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

Psoriasis: An Immunogenetic Perspective

Global Medical Genetics, 2022

DOI 10.1055/s-0042-1743259 PMID 35707771 15 atıf (Europe PMC) Açık erişimli tam metinKaynak: ORCID

An immunogenetic perspective of ANCA-associated vasculitides

Egyptian Rheumatology and Rehabilitation, 2022

DOI 10.1186/s43166-022-00114-4 2 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

A novel p.Ala34Val variant in C19orf12 is associated with neurodegeneration with brain iron accumulation

Neurology Asia, 2022

DOI 10.54029/2022xfc 1 atıf (Scopus) Açık erişimli tam metinKaynak: Scopus

A Novel KMT2D mutation in Kabuki syndrome with elevated liver enzymes and congenital bilateral hip dislocation

Neurology Asia, 2021

DOI 10.54029/2021ryp 1 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

Case report: a de-novo 7p12.3 microduplication detected in an infant with perineal hamartoma and imperforate anus

Egyptian Journal of Medical Human Genetics, 2021

DOI 10.1186/s43042-021-00205-5 Açık erişimli tam metinKaynak: Scopus

Allen-Herndon-Dudley Sendromunda yeni Bir Hemizigot SLC16A2 nonsense mutasyonu

DergiPark (Istanbul University), 2021

Açık erişimli tam metinKaynak: OpenAlex

Genetics of Behçet’s Disease

Behçet's Disease - Recent Advances and New Perspectives [Working Title], 2021

DOI 10.5772/intechopen.101342 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

Association of NOD1, NOD2, PYDC1 and PYDC2 genes with Behcet’s disease susceptibility and clinical manifestations

Ophthalmic Genetics, 2021

DOI 10.1080/13816810.2021.1955273 PMID 34294014 4 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID

Behçet Hastalığı ile İnterlökin-4 gen (VNTR) Polimorfizmi Arasındaki İlişkinin Araştırılması

Medical Journal of Western Black Sea, 2021

DOI 10.29058/mjwbs.763529 1 atıf (OpenAlex) Açık erişimli tam metinKaynak: ORCID

Association Between IL28B, IL29 Gene Polymorphisms and Clinical Manifestations of Behçet’s Disease

Immunological Investigations, 2020

DOI 10.1080/08820139.2020.1791176 PMID 32646311 3 atıf (Scopus) Açık erişimli tam metinKaynak: ORCID