Ayberk Turkyilmaz

发表

Biallelic Mutations in DNAJB11are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

E. Ateş, P. Ata, A. Arman, 2021, Molecular Syndromology.

First Report of a de novo 10q23.31q23.33 Microdeletion: Obesity, Intellectual Disability and Microcephaly

A. Çayır, Erdal Kurnaz, Ayberk Turkyilmaz, 2021, Molecular Syndromology.

Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population

D. Turkdoğan, G. Sager, O. Unver, 2021, The International journal of neuroscience.

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease

Y. Akın, G. Sager, O. Yaralı, 2022, neurogenetics.

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

E. Ateş, A. Arman, B. Geckinli, 2020, Clinical dysmorphology.

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

Y. Akın, E. Karatoprak, Ayberk Turkyilmaz, 2022, Brain and Development.

Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients

Ceren Alavanda, Esra Arslan Ateş, A. I. Guney, 2022, Medeniyet medical journal.

Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features

I. Gokce, A. Bereket, S. Turan, 2021, Calcified Tissue International.

Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b

H. Doneray, Ayberk Turkyilmaz, Ayse Ozden, 2021, Endocrine.

Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency

M. Gokcu, E. Ateş, P. Ata, 2022, Journal of Assisted Reproduction and Genetics.

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)

Y. Akın, G. Sager, Y. Çağ, 2023, Neurophysiologie Clinique.

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker–Young–Simpson syndrome phenotype

Ayberk Turkyilmaz, Ayse Ozden, 2021, Clinical dysmorphology.

Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism

A. Çayır, Erdal Kurnaz, H. Demirbilek, 2021, Journal of pediatric endocrinology & metabolism : JPEM.

A novel truncating mutation of DOCK7 gene with an early-onset non-encephalopathic epilepsy

G. Ekinci, D. Turkdoğan, Z. Gormez, 2019, Seizure.

HACE1, GLRX5, and ELP2 gene variant cause spastic paraplegies

E. Ateş, G. Sager, Ayberk Turkyilmaz, 2021, Acta Neurologica Belgica.

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome

G. Sager, A. Arman, B. Geckinli, 2023, Clinical dysmorphology.

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients.

L. Notarangelo, A. Worth, M. Bosticardo, 2023, Clinical immunology.

The New Youngest Case of Grange Syndrome with a Novel Biallelic Pathogenic Variant in YY1AP1

D. Eriş, Ayberk Turkyilmaz, Taner Karakaya, 2023, Molecular Syndromology.

A Genetic Approach in the Evaluation of Short Stature

A. Çayır, Ayberk Turkyilmaz, Ayşe Sena Donmez, 2022, The Eurasian journal of medicine.