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Development and validation of a carnitine cycle and transport disorders (CCD) panel: an ONT-compatible multi-gene diagnostic kit for newborn and selective screening by Gökçe Akan, Mehmet Cihan Balcı, Gülten Tuncel, Meryem Karaca, Hasan Hüseyin Kazan, Ahmet Çağlar Özketen, Özge Özgen, Gülden Fatma Gökçay, Fatmahan Atalar
Published 2025-05-01Get full text
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An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort by Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay
Published 2025-01-01Get full text
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