Doç. Dr. Ahmet Yeşilyurt

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

The American Journal of Human Genetics, 2026

DOI 10.1016/j.ajhg.2025.12.011 PMID 41544630 2 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

The American Journal of Human Genetics, 2026

DOI 10.1016/j.ajhg.2025.12.015 PMID 41570816 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

American Journal of Medical Genetics Part A, 2026

DOI 10.1002/ajmg.a.70097 PMID 41804662 Quelle: OpenAlex

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence‐Farazi Cerebellar Ataxia Syndrome

American Journal of Medical Genetics Part A, 2026

DOI 10.1002/ajmg.a.70125 PMID 41821366 Quelle: OpenAlex

Novel Compound Heterozygous Variants in SLC13A3 Associated With ARLIAK: A Case Report and Review of the Literature

International Journal of Developmental Neuroscience, 2026

DOI 10.1002/jdn.70174 PMID 42587386 Frei zugänglicher VolltextQuelle: OpenAlex

De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder

Molecular Psychiatry, 2026

DOI 10.1038/s41380-026-03877-w PMID 41415500 Quelle: OpenAlex

Biallelic variants in CFAP20DC cause primary ciliary dyskinesia due to abnormal ciliary clearance

American Journal of Respiratory and Critical Care Medicine, 2026

DOI 10.1093/ajrccm/aamag524 PMID 42853647 Quelle: OpenAlex

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience

Frontiers in Pediatrics, 2025

DOI 10.3389/fped.2025.1471965 PMID 40083435 2 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

The American Journal of Human Genetics, 2025

DOI 10.1016/j.ajhg.2025.02.005 PMID 39417135 Quelle: OpenAlex

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

The American Journal of Human Genetics, 2025

DOI 10.1016/j.ajhg.2024.12.001 PMID 39753114 5 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum

Balkan Medical Journal, 2025

DOI 10.4274/balkanmedj.galenos.2025.2025-9-81 PMID 41320952 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review

Molecular Syndromology, 2025

DOI 10.1159/000544821 PMID 41378236 Frei zugänglicher VolltextQuelle: OpenAlex

A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum

Molecular Syndromology, 2025

DOI 10.1159/000547120 PMID 41064057 Frei zugänglicher VolltextQuelle: OpenAlex

CACNA1E Geninde Tanımlanan Yeni Bir Nonsens Varyant ve Hafif Klinik Fenotip ile İlişkisi: Olgu Sunumu

Yüksek İhtisas Üniversitesi Sağlık Bilimleri Dergisi, 2025

DOI 10.51261/yiu.2025.1822395 Quelle: OpenAlex

Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency

Newcastle University ePrints (Newcastle Univesity), 2025

DOI 10.25405/ncl.34525389 Quelle: OpenAlex

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center

Frontiers in Genetics, 2024

DOI 10.3389/fgene.2024.1347474 PMID 38560291 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants

Pediatric Neurology, 2024

DOI 10.1016/j.pediatrneurol.2024.01.005 PMID 38301322 8 Zitationen (Europe PMC) Quelle: OpenAlex

A Witteveen-Kolk Syndrome Patient with Reflux Disease and a de novo Deletion of the SIN3A Gene

Molecular Syndromology, 2024

DOI 10.1159/000536072 PMID 38841330 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

A Homozygous MYH1 Variant Underlies Autosomal Recessive Isolated Recurrent Rhabdomyolysis

American Journal of Medical Genetics Part A, 2024

DOI 10.1002/ajmg.a.63952 PMID 39687948 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer

Frontiers in Genetics, 2023

DOI 10.3389/fgene.2023.1052383 PMID 36896237 46 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly

European Journal of Human Genetics, 2023

DOI 10.1038/s41431-023-01461-2 PMID 37880421 11 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

TRAPPC9-Related Intellectual Disability: Report of Two New Cases and Review of the Literature

Molecular Syndromology, 2023

DOI 10.1159/000531439 PMID 38058760 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure

Intractable & Rare Diseases Research, 2022

DOI 10.5582/irdr.2022.01096 PMID 36457583 4 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Homozygous SQSTM1 nonsense variant identified in a patient with brainstem involvement

Brain and Development, 2021

DOI 10.1016/j.braindev.2021.06.001 PMID 34147300 7 Zitationen (Europe PMC) Quelle: OpenAlex

Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders

2020

Quelle: OpenAlex

Association of vitamin D receptor gene FokI and TaqI polymorphisms and risk of RDS

The Journal of Maternal-Fetal & Neonatal Medicine, 2019

DOI 10.1080/14767058.2019.1582629 PMID 30760068 3 Zitationen (Europe PMC) Quelle: OpenAlex

Efficacy of stem cell therapy in ambulatory and nonambulatory children with Duchenne muscular dystrophy – Phase I–II

Degenerative Neurological and Neuromuscular Disease, 2018

DOI 10.2147/dnnd.s170087 PMID 30498389 25 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Maturity Onset Diabetes of the Young due to Glucokinase, HNF1-A, HNF1-B, and HNF4-A Mutations in a Cohort of Turkish Children Diagnosed as Type 1 Diabetes Mellitus

Hormone Research in Paediatrics, 2018

DOI 10.1159/000494431 PMID 30481753 7 Zitationen (Europe PMC) Quelle: OpenAlex

The effect of phototherapy on sister chromatid exchange with different light density in newborn hyperbilirubinemia

Türk Pediatri Arşivi, 2018

DOI 10.5152/turkpediatriars.2017.5143 PMID 29483799 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Retinal and Choroidal Thickness in Adult Patients with Familial Mediterranean Fever

Ophthalmic Epidemiology, 2017

DOI 10.1080/09286586.2017.1294697 PMID 28319450 14 Zitationen (Europe PMC) Quelle: OpenAlex

Vitamin D status, serum lipid concentrations, and vitamin D receptor (VDR) gene polymorphisms in Familial Mediterranean fever

Bosnian Journal of Basic Medical Sciences, 2017

DOI 10.17305/bjbms.2017.2259 PMID 28926322 8 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

PubMed Central, 2016

PMID 27777502 15 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Pancreatic Beta Cell Purification by Flow Cytometer and a Modified Rat Pancreatic Islet Cell Isolation Method

Niche Journal, 2016

DOI 10.5152/niche.2015.216 Quelle: OpenAlex

The association between the FTO gene and gestational diabetes mellitus

Endocrine Abstracts, 2016

DOI 10.1530/endoabs.41.ep447 Quelle: OpenAlex

BRAFV600E Mutation, RET/PTC1 and PAX8-PPAR Gamma Rearrangements in Follicular Epithelium Derived Thyroid Lesions - Institutional Experience and Literature Review

Balkan Medical Journal, 2015

DOI 10.5152/balkanmedj.2015.15101 PMID 26167339 12 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Association Between Keratoconus and Familial Mediterranean Fever in Turkey

Cornea, 2015

DOI 10.1097/ico.0000000000000662 PMID 26509767 13 Zitationen (Europe PMC) Quelle: OpenAlex

Thyroid hormone resistance in two patients with papillary thyroid microcarcinoma and their BRAFV600E mutation status

Archives of Endocrinology and Metabolism, 2015

DOI 10.1590/2359-3997000000091 PMID 26331327 7 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

Nonclassical Congenital Adrenal Hyperplasia and Pregnancy

Case Reports in Endocrinology, 2015

DOI 10.1155/2015/296924 PMID 26558116 2 Zitationen (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex

The effects of commonly used intravitreal steroids on proliferation index of ciliary body-derived mesenchymal stem cells: anin vitrostudy

Cutaneous and Ocular Toxicology, 2015

DOI 10.3109/15569527.2015.1011746 PMID 25714111 3 Zitationen (Europe PMC) Quelle: OpenAlex

Combined genetic mutations have remarkable effect on deep venous thrombosis and/or pulmonary embolism occurence

Gene, 2013

DOI 10.1016/j.gene.2013.11.019 PMID 24334115 17 Zitationen (Europe PMC) Quelle: OpenAlex

The effects of oral carvacrol treatment against H2O2induced injury on isolated pancreas islet cells of rats

Islets, 2013

DOI 10.4161/isl.25519 PMID 23817295 19 Zitationen (Europe PMC) Quelle: OpenAlex

46,XX Male Syndrome

Endocrinology research and practice., 2013

DOI 10.4274/tjem.2064 5 Zitationen (OpenAlex) Frei zugänglicher VolltextQuelle: OpenAlex

The Contralateral Extremity has Also Benefit from the Locally Administered Bone Marrow-Derived Mononuclear Cells and Cord Blood Serum in Diabetic Ischemic Wound Healing

Stem Cell Reviews and Reports, 2013

DOI 10.1007/s12015-013-9480-1 PMID 24158645 1 Zitation (Europe PMC) Quelle: OpenAlex

OTX2 mutations contribute to the otocephaly-dysgnathia complex

Journal of Medical Genetics, 2012

DOI 10.1136/jmedgenet-2012-100892 PMID 22577225 47 Zitationen (Europe PMC) Quelle: OpenAlex

A retrospective analysis of amniocenteses performed for advanced maternal age and various other indications in Turkish women

The Journal of Maternal-Fetal & Neonatal Medicine, 2012

DOI 10.3109/14767058.2012.733756 PMID 23025698 4 Zitationen (Europe PMC) Quelle: OpenAlex

Association between Pre-Eclampsia and Inherited Thrombophilias

Fetal and Pediatric Pathology, 2012

DOI 10.3109/15513815.2012.721475 PMID 23002795 5 Zitationen (Europe PMC) Quelle: OpenAlex

Molecular diagnosis of autosomal recessive non-syndromic hearing losses

Abant Medical Journal, 2012

DOI 10.5505/abantmedj.2012.02486 Quelle: OpenAlex

The protective effect of erdosteine on radiocontrast induced nephrotoxicity in rats

Environmental Toxicology, 2011

DOI 10.1002/tox.20691 PMID 21384492 8 Zitationen (Europe PMC) Quelle: OpenAlex

Partial trisomy 8p (8p11.2-->pTER) and deletion of 13q (13q32-->qTER): case report.

PubMed, 2011

PMID 21614986 3 Zitationen (Europe PMC) Quelle: OpenAlex

Squamous cell carcinoma of the vulva in a virgin patient with Turner syndrome

Journal of Gynecologic Oncology, 2011

DOI 10.3802/jgo.2011.22.3.211 PMID 21998766 1 Zitation (Europe PMC) Frei zugänglicher VolltextQuelle: OpenAlex