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Clinical Genetics|January 12, 2026
ESAM Loss of Function and Congenital Neurovascular Injury: Strengthening the Case for a Recognizable Clinical PhenotypeOmar Alomari, Zülal Emel Şentürk, Beyzanur Güney, et al.
Medeniyet Medical Journal|March 21, 2022
How to Manage Low Estriol Levels in Pregnancies, One Center ExperienceElif Yilmaz Gulec, Alper Gezdirici, Akif Ayaz, et al.
Clinical Genetics|December 12, 2024
Homozygous ASTN1 Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical PresentationAkif Ayaz, Safiye Güneş Sager, Ahmet Sercan Gökşen, et al.
Brain & Development|September 20, 2016
A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresisYavuz Sahin, Olcay Güngör, Akif Ayaz, et al.
Indian Journal of Pediatrics|March 10, 2022
Chronic Neutropenia in Childhood: Laboratory and Clinical FeaturesSerdar Nepesov, Yontem Yaman, Murat Elli, et al.
Medeniyet Medical Journal|June 23, 2022
Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two CentersAkif Ayaz, Alper Gezdirici, Elif Yilmaz Gulec, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|February 4, 2025
Unclear symptoms, early diagnosis and perfect outcome: a case diagnosed as sepiapterin reductase deficiency hidden behind vitamin B12 deficiencyİsmail Hakkı Akbeyaz, Olcay Ünver, Gülten Öztürk, et al.
Molecular Syndromology|February 6, 2025
Expression of Autophagy-Related Proteins in Microlissencephaly Associated with a Novel Variant in the <i>WDR81</i> GeneHatice Yelda Yalçın, Ufkay Karabay, Tayfun Cinleti, et al.
Pediatric Transplantation|February 21, 2022
HLA - matched related donor hematopoietic stem cell transplantation in a patient with polynucleotide kinase 3-phosphatase mutation developed acute myeloid leukemiaNihan Bayram, Yontem Yaman, Murat Elli, et al.
The Journal of International Advanced Otology|September 19, 2015
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova RegionSevcan Tuğ Bozdoğan, Gökhan Kuran, Özge Özalp Yüregir, et al.
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