Apparent efficacy of NMDAR antagonist use as a targeted therapy for status epilepticus in an infant with ATP1A2-related developmental epileptic encephalopathy
Leman Tekin Orgun, Adnan Deniz, Ayfer Sakarya Güneş, Gökçe Cırdı, Bülent Kara et al.
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Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes
Shahrashoub Sharifi, Murat Dursun, Ayla Şahin, Serdar Turan, Ateş Kadıoğlu et al.
Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici et al.
Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients
Yücel Erbilgin, Sinem Firtina, Elif Kirat, Khusan Khodzhaev, Zeynep Karakas et al.
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, Gamze Vuran, Durdugül Ayyıldız Emecen et al.
Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy
Didem Tezen, Zakhiriddin Khojakulov, Ayşegül Gündüz, Feza Deymeer, Veysi Demirbilek, and Ayşe Nazlı Başak
Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz et al.
A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature
Damla Baysal Bakır, Suna Asilsoy, Nevin Uzuner, Halime Yağmur, Gizem Kabadayı et al.