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Showing results (51-60 of 55) with videos related to

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Molecular Genetics and Metabolism|May 21, 2024
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individualsTanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, et al.
Journal of Inherited Metabolic Disease|July 24, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment ResponseTanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, et al.
Journal of Inherited Metabolic Disease|May 3, 2026
Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World StudySema Kalkan Uçar, Neslihan Önenli Mungan, Gülden Fatma Gökçay, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
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Showing results (51-60 of 55) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 55 results.
Molecular Genetics and Metabolism|May 21, 2024
Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individualsTanyel Zubarioglu, Ertuğrul Kıykım, Engin Köse, et al.
Journal of Inherited Metabolic Disease|July 24, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment ResponseTanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, et al.
Journal of Inherited Metabolic Disease|May 3, 2026
Shifting Towards Empagliflozin First-Line Therapy in Glycogen Storage Disease Type Ib: A Nationwide Real-World StudySema Kalkan Uçar, Neslihan Önenli Mungan, Gülden Fatma Gökçay, et al.
Life (Basel, Switzerland)|November 11, 2022
Three-Country Snapshot of Ornithine Transcarbamylase DeficiencyBerna Seker Yilmaz, Julien Baruteau, Nur Arslan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2026
Effect of long-term sepiapterin treatment on dietary phenylalanine tolerance in patients with phenylketonuria: interim results from the Phase 3 APHENITY Extension StudyFrancjan van Spronsen, Heidi Peters, Lali Margvelashvili, et al.
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