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Genetics in Medicine Open|September 8, 2025
Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United KingdomBilal Bashir, Natalie Forrester, Paul Downie, et al.Orphanet Journal of Rare Diseases|April 8, 2018
Consensus clinical management guidelines for Niemann-Pick disease type CTarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, et al.Contemporary Clinical Trials Communications|May 7, 2024
Levelling the playing field through the London Network of the UK clinical trials accelerator platformJessie Matthews, Rebecca Dobra, Gemma Wilson, et al.Nutrients|July 15, 2026
How Well Is Blood Phenylalanine Controlled in Maternal PKU in Europe? Results from 102 PregnanciesAlex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.Nutrients|July 15, 2026
Blood Phenylalanine Control in Paediatric and Adult Centres in the UK: Data from 2012-2018Alex Pinto, Catherine Ashmore, Jane Ash, et al.Journal of Inherited Metabolic Disease|April 26, 2026
2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type CTarekegn Hiwot, Forbes D Porter, Tatiana Bremova-Ertl, 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|May 3, 2022
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaireSarah C Grünert, Terry G J Derks, Katarina Adrian, et al.Pageof 8