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Public Health Ethics
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August 7, 2019
What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening
Stuart G Nicholls, Holly Etchegary, Laure Tessier, et al.
Journal of Inherited Metabolic Disease
|
October 28, 2010
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Osama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.
Molecular Genetics and Metabolism
|
September 13, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 11, 2012
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
Beth K Potter, Pranesh Chakraborty, Jonathan B Kronick, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
Matthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Elife
|
March 20, 2019
External validation of postnatal gestational age estimation using newborn metabolic profiles in Matlab, Bangladesh
Malia Sq Murphy, Steven Hawken, Wei Cheng, et al.
Prenatal Diagnosis
|
November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects
Akos 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 Measurement
Sarah 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 results
June 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 fibrosis
Yvonne Bombard, Fiona A Miller, Carolyn J Barg, et al.
Page
of 16
Search research articles
Search
Showing results (101-110 of 154) with videos related to
Sort By:
Page
of 16
Public Health Ethics
|
August 7, 2019
What is in a Name? Parent, Professional and Policy-Maker Conceptions of Consent-Related Language in the Context of Newborn Screening
Stuart G Nicholls, Holly Etchegary, Laure Tessier, et al.
Journal of Inherited Metabolic Disease
|
October 28, 2010
Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry
Osama Y Al-Dirbashi, Stefan Kölker, Dione Ng, et al.
Molecular Genetics and Metabolism
|
September 13, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014)
Srinitya Gannavarapu, Chitra Prasad, Jennifer DiRaimo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 11, 2012
Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework
Beth K Potter, Pranesh Chakraborty, Jonathan B Kronick, et al.
European Journal of Human Genetics : EJHG
|
September 6, 2021
A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
Matthew A Lines, Alexanne Cuillerier, Pranesh Chakraborty, et al.
Elife
|
March 20, 2019
External validation of postnatal gestational age estimation using newborn metabolic profiles in Matlab, Bangladesh
Malia Sq Murphy, Steven Hawken, Wei Cheng, et al.
Prenatal Diagnosis
|
November 13, 2023
Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects
Akos 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 Measurement
Sarah 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 results
June 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 fibrosis
Yvonne Bombard, Fiona A Miller, Carolyn J Barg, et al.
Page
of 16