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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,
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Genetic insights into non-obstructive azoospermia: Implications for diagnosis and TESE outcomes
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Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders
Cuneyd Yavas, Yunus Emre Arvas, Mustafa Dogan, Alper Gezdirici et al.
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Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients
Yücel Erbilgin, Sinem Firtina, Elif Kirat, Khusan Khodzhaev, Zeynep Karakas et al.
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Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants
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Clinical, electrophysiological, and genetic analysis of a family with two rare neuromuscular disorders: congenital myasthenic syndrome and hereditary polyneuropathy
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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.
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A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature
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Morphomolecular Correlation and Clinicopathologic Analysis in Endometrial Carcinoma
Bülbül, Göksenil; Aktaş, Tekincan Çağri; Aysal Ağalar, Anil; Aktaş, Safiye; Kurt, Sefa et al.
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