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Frontiers in Genetics|June 28, 2023
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseasesAsuman Gedikbasi, Guven Toksoy, Meryem Karaca, et al.Nephron|August 23, 2023
Concurrent Cobalamin C and Plasminogen Deficiencies in a Patient with Chronic Thrombotic MicroangiopathyAhmet Burak Dirim, Seda Safak, Mehmet Cihan Balci, et al.International Journal of Molecular Sciences|June 13, 2025
Benchmarking Nanopore Sequencing for CLN2 (TPP1) Mutation Detection: Integrating Rapid Genomics and Orthogonal Validation for Precision DiagnosticsBetül Teker, Gökce Akan, Hasan Hüseyin Kazan, et al.Scientific Reports|July 18, 2025
Impact of individualized and supervised strength training on muscle physiology, metabolic control and quality of life in metabolic myopathiesTanyel Zubarioglu, Sertaç Yakal, Fatmanur Yegin, et al.Orphanet Journal of Rare Diseases|August 2, 2025
A comprehensive integrated disease management program for phenylketonuria (IDMP-PKU) from Türkiye: rationale, design and patient characteristicsMehmet Cihan Balci, Deniz Kor, Yilmaz Yildiz, et al.Journal of Inherited Metabolic Disease|September 12, 2022
A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALTQuinton S Katler, Karolina M Stepien, Nathan Paull, et al.Pageof 2