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Journal of Medical Genetics|September 20, 2013
Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencingBenjamin Nota, Eline M Hamilton, Daoud Sie, et al.Plos One|January 11, 2022
The effect of casein glycomacropeptide versus free synthetic amino acids for early treatment of phenylketonuria in a mice modelKirsten K Ahring, Frederik Dagnæs-Hansen, Annemarie Brüel, et al.Orphanet Journal of Rare Diseases|May 7, 2025
Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient surveyKarolina M Stepien, Sophie Thomas, Julia B Hennermann, et al.Clinical Science (London, England : 1979)|January 27, 2018
Elevated vasopressin in pregnant mice induces T-helper subset alterations consistent with human preeclampsiaSabrina M Scroggins, Donna A Santillan, Jenna M Lund, et al.Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|August 26, 2018
Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adultsJ D Hald, L Folkestad, C Z Swan, et al.The Journal of Infectious Diseases|April 12, 2026
Initiation of oral pre-exposure prophylaxis associated with changes in genital tract T cell phenotypes in women exposed to HIVLakshmi Warrier, Ayumi Saito, Jessica B Graham, et al.Nature Structural & Molecular Biology|July 6, 2026
Promoter reinforcement supports transcriptional resilience in drug-resistant cancerVasumathi Kameswaran, Sayantanee Paul, Daniel Le, et al.Nucleic Acids Research|December 15, 2024
A comprehensive analysis framework for evaluating commercial single-cell RNA sequencing technologiesMarco De Simone, Jonathan Hoover, Julia Lau, et al.Biorxiv : the Preprint Server for Biology|September 30, 2020
Baseline T cell immune phenotypes predict virologic and disease control upon SARS-CoV infectionJessica B Graham, Jessica L Swarts, Sarah R Leist, et al.Journal of Inherited Metabolic Disease|May 31, 2018
Efficacy and safety of Velmanase alfa in the treatment of patients with alpha-mannosidosis: results from the core and extension phase analysis of a phase III multicentre, double-blind, randomised, placebo-controlled trialLine Borgwardt, Nathalie Guffon, Yasmina Amraoui, et al.Pageof 59