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Human Molecular Genetics|May 23, 2013
A Y328C missense mutation in spermine synthase causes a mild form of Snyder-Robinson syndromeZhe Zhang, Joy Norris, Vera Kalscheuer, et al.
Molecular Genetics and Metabolism Reports|March 4, 2022
Hematopoietic cell transplantation for sialidosis type IAshish O Gupta, Marc C Patterson, Tim Wood, et al.
Nuclear Medicine Communications|April 29, 2017
A national survey of computed tomography doses in hybrid PET-CT and SPECT-CT examinations in the UKGareth R Iball, Natalie A Bebbington, Maria Burniston, et al.
International Journal of Molecular Sciences|October 29, 2025
Systemic Metabolic Rewiring in a Mouse Model of Left Ventricular HypertrophyAlexandra V Schmidt, Tharika Thambidurai, Olivia D'Annibale, et al.
The New Zealand Medical Journal|May 7, 2026
Insights into a large waterborne Campylobacter outbreak from a cross-sectional telephone surveyBrent J Gilpin, Shevaun Paine, Tim Wood, et al.
Journal of Child Neurology|May 27, 2010
X-linked creatine transporter deficiency presenting as a mitochondrial disorderSamantha C Hathaway, Michael Friez, Kimberly Limbo, et al.
American Journal of Medical Genetics. Part A|July 31, 2013
Snyder-Robinson syndrome: a novel nonsense mutation in spermine synthase and expansion of the phenotypeAngela Peron, Luigina Spaccini, Joy Norris, et al.
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