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Molecular Genetics and Metabolism|May 31, 2016
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass SpectrometrySusan Elliott, Norman Buroker, Jason J Cournoyer, et al.
Data in Brief|August 11, 2016
Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometrySusan Elliott, Norman Buroker, Jason J Cournoyer, et al.
American Journal of Human Genetics|February 21, 2025
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing dataMeltem Ece Kars, David Stein, Peter D Stenson, et al.
Human Mutation|January 4, 2020
Elucidation of de novo small insertion/deletion biology with parent-of-origin phasingAllison H Seiden, Felix Richter, Nihir Patel, et al.
Frontiers in Oncology|August 28, 2020
Predictive Modeling of Thoracic Radiotherapy Toxicity and the Potential Role of Serum Alpha-2-MacroglobulinDonata von Reibnitz, Ellen D Yorke, Jung Hun Oh, et al.
Ophthalmology|September 14, 2020
Preoperative Medical Testing and Falls in Medicare Beneficiaries Awaiting Cataract SurgeryCatherine L Chen, Stephen D McLeod, Thomas M Lietman, et al.
The New England Journal of Medicine|September 8, 2001
A comparison of lorazepam, diazepam, and placebo for the treatment of out-of-hospital status epilepticusB K Alldredge, A M Gelb, S M Isaacs, et al.
Molecular and Biochemical Parasitology|January 9, 2007
Resistance mutations at the lipid substrate binding site of Plasmodium falciparum protein farnesyltransferaseRichard T Eastman, John White, Oliver Hucke, et al.
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