Where I see patients (2)
Selected research
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Prenatal Delivery of Enzyme Replacement Therapy to Fetuses Affected by Early-Onset Lysosomal Storage Diseases.
American journal of medical genetics. Part C, Seminars in medical genetics
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Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
Molecular genetics and metabolism
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3-hour genome sequencing and targeted analysis to rapidly assess genetic risk.
Genetics in medicine open
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