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Optimizing genetics online resources for diverse readers.
Correction: Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
Genetics workforce: distribution of genetics services and challenges to health care in California.
Evaluation of the cost and effectiveness of diverse recruitment methods for a genetic screening study.
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.
Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature.
Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.