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Optimizing genetics online resources for diverse readers.
Genetics workforce: distribution of genetics services and challenges to health care in California.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study.
Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
A randomized trial to study the comparative efficacy of phenylbutyrate and benzoate on nitrogen excretion and ureagenesis in healthy volunteers.
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome.
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.