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Status of IKZF1 Deletions in Diagnose and Relapsed Pediatric B-ALL Patients
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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
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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
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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
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Investigation of genotype-phenotype and familial features of Turkish dystrophinopathy patients
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