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European Journal of Human Genetics : EJHG|September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiencyMatthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Prenatal Diagnosis|November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospectsAkos Herzeg, Beltran Borges, Billie R Lianoglou, et al.
Journal of the Endocrine Society|December 15, 2025
Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol MeasurementSarah E Lawrence, Janet Marcadier, Sheila Auger, et al.
Canadian Family Physician Medecin De Famille Canadien|June 15, 2021
Newborn screening for cystic fibrosis: Role of primary care providers in caring for infants with positive screening resultsJune C Carroll, Robin Z Hayeems, Fiona A Miller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2016
A secondary benefit: the reproductive impact of carrier results from newborn screening for cystic fibrosisYvonne Bombard, Fiona A Miller, Carolyn J Barg, et al.
Molecular Genetics and Metabolism|December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profilingKevin E Glinton, Paul J Benke, Matthew A Lines, et al.
JIMD Reports|June 17, 2016
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) DeficiencyAmanda Smith, Skye McBride, Julien L Marcadier, et al.
Canadian Family Physician Medecin De Famille Canadien|June 15, 2021
Primary care providers' role in newborn screening result notification for cystic fibrosisRobin Z Hayeems, Fiona A Miller, Carolyn J Barg, et al.
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