Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy

Seizure: European Journal of Epilepsy, 2025By Ahmet Can TurkogluMarch 1, 2025Leave a comment

Leman Tekin Orgun, Adnan Deniz, Ayfer Sakarya Güneş, Gökçe Cırdı,
Bülent Kara et al.

Details

Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes

Journal of Assisted Reproduction and Genetics, 2025By Ahmet Can TurkogluFebruary 11, 2025Leave a comment

Shahrashoub Sharifi, Murat Dursun, Ayla Şahin, Serdar Turan, Ateş Kadıoğlu et al.

Details

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

Clinical Genetics, 2025By Ahmet Can TurkogluJanuary 24, 2025Leave a comment

Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici et al.

Details

Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients

Biochemical Genetics, 2025By Ahmet Can TurkogluJanuary 9, 2025Leave a comment

Yücel Erbilgin, Sinem Firtina, Elif Kirat, Khusan Khodzhaev, Zeynep Karakas et al.

Details

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants

European Journal of Pediatrics, 2024By Ahmet Can TurkogluDecember 27, 2024Leave a comment

Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, Gamze Vuran, Durdugül Ayyıldız Emecen et al.

Details

Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy

Neurological Sciences, 2024By Ahmet Can TurkogluOctober 10, 2024Leave a comment

Didem Tezen, Zakhiriddin Khojakulov, Ayşegül Gündüz, Feza Deymeer, Veysi Demirbilek, and Ayşe Nazlı Başak

Details

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application

BMC Medical Genomics, 2024By Ahmet Can TurkogluSeptember 30, 2024Leave a comment

Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz et al.

Details

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Immunologic Research, 2024By Ahmet Can TurkogluSeptember 19, 2024Leave a comment

Damla Baysal Bakır, Suna Asilsoy, Nevin Uzuner, Halime Yağmur, Gizem Kabadayı et al.

Details

Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma

International Journal of Gynecological Pathology, 2024By Ahmet Can TurkogluJuly 8, 2024Leave a comment

Bülbül, Göksenil; Aktaş, Tekincan Çağri; Aysal Ağalar, Anil; Aktaş, Safiye; Kurt, Sefa et al.

Details

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Journal of Clinical Immunology, 2024By Ahmet Can TurkogluJuly 2, 2024Leave a comment

Baran Erman, Umran Aba, Canberk Ipsir, Damla Pehlivan, Caner Aytekin et al.

Details