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Molecular Genetics and Metabolism
|
August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Science Translational Medicine
|
July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Frontiers in Genetics
|
August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Amy Brower, Kee Chan, Marc Williams, et al.
International Journal of Neonatal Screening
|
April 30, 2021
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
Alexander D Rowe, Stephanie D Stoway, Henrik Åhlman, et al.
Tissue Engineering. Part A
|
July 26, 2021
Limited Expansion of Human Hepatocytes in FAH/<i>RAG2</i>-Deficient Swine
Erek David Nelson, Ellen Larson, Dong Jin Joo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Archives of Pathology & Laboratory Medicine
|
July 13, 2006
Teaching pediatric laboratory medicine to pathology residents
Theodore J Pysher, Philip R Bach, Sharon M Geaghan, et al.
International Journal of Neonatal Screening
|
October 30, 2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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Search research articles
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Showing results (91-100 of 100) with videos related to
Sort By:
Page
of 10
You have reached the last page of results.
This site can display upto 100 results.
Molecular Genetics and Metabolism
|
August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec
Jean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Science Translational Medicine
|
July 29, 2016
Curative ex vivo liver-directed gene therapy in a pig model of hereditary tyrosinemia type 1
Raymond D Hickey, Shennen A Mao, Jaime Glorioso, et al.
Frontiers in Genetics
|
August 8, 2022
Population-Based Screening of Newborns: Findings From the NBS Expansion Study (Part One)
Amy Brower, Kee Chan, Marc Williams, et al.
International Journal of Neonatal Screening
|
April 30, 2021
A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools
Alexander D Rowe, Stephanie D Stoway, Henrik Åhlman, et al.
Tissue Engineering. Part A
|
July 26, 2021
Limited Expansion of Human Hepatocytes in FAH/<i>RAG2</i>-Deficient Swine
Erek David Nelson, Ellen Larson, Dong Jin Joo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 25, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J Guenzel, Coleman T Turgeon, Kim K Nickander, et al.
Archives of Pathology & Laboratory Medicine
|
July 13, 2006
Teaching pediatric laboratory medicine to pathology residents
Theodore J Pysher, Philip R Bach, Sharon M Geaghan, et al.
International Journal of Neonatal Screening
|
October 30, 2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses
Trine Tangeraas, Ingjerd Sæves, Claus Klingenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 7, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
Gregg Marquardt, Robert Currier, David M S McHugh, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 18, 2011
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
David M S McHugh, Cynthia A Cameron, Jose E Abdenur, et al.
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