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The Journal of Allergy and Clinical Immunology. in Practice
|
August 21, 2019
A single nucleotide polymorphism in the T-cell receptor excision circle
Melissa D Gans, Carlos A Saavedra-Matiz, Larry Bernstein
American Journal of Medical Genetics. Part A
|
February 5, 2008
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
Matthew J Nichols, Carlos A Saavedra-Matiz, Kenneth A Pass, et al.
Journal of Neuroscience Research
|
September 18, 2016
Newborn screening for Krabbe's disease
Joseph J Orsini, Carlos A Saavedra-Matiz, Michael H Gelb, et al.
Journal of Neuroscience Research
|
September 18, 2016
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease
Carlos A Saavedra-Matiz, Paola Luzi, Matthew Nichols, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
Camille S Corre, Dietrich Matern, Joan E Pellegrino, et al.
International Journal of Neonatal Screening
|
November 29, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
Robert J Sicko, Colleen F Stevens, Erin E Hughes, et al.
Orphanet Journal of Rare Diseases
|
February 20, 2019
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Maria L Beltran-Quintero, Nicholas A Bascou, Michele D Poe, et al.
Analytical Chemistry
|
March 18, 2025
Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight-Metabolome Correlations
Carter K Asef, Samuel G Moore, Charles Austin Pickens, et al.
European Journal of Pediatrics
|
August 22, 2015
Screening for cystic fibrosis in New York State: considerations for algorithm improvements
Denise M Kay, Breanne Maloney, Rhonda Hamel, et al.
Plos One
|
February 27, 2018
Analysis of age-related changes in psychosine metabolism in the human brain
Michael S Marshall, Benas Jakubauskas, Wil Bogue, et al.
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of 2
Search research articles
Search
Showing results (1-10 of 18) with videos related to
Sort By:
Page
of 2
The Journal of Allergy and Clinical Immunology. in Practice
|
August 21, 2019
A single nucleotide polymorphism in the T-cell receptor excision circle
Melissa D Gans, Carlos A Saavedra-Matiz, Larry Bernstein
American Journal of Medical Genetics. Part A
|
February 5, 2008
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
Matthew J Nichols, Carlos A Saavedra-Matiz, Kenneth A Pass, et al.
Journal of Neuroscience Research
|
September 18, 2016
Newborn screening for Krabbe's disease
Joseph J Orsini, Carlos A Saavedra-Matiz, Michael H Gelb, et al.
Journal of Neuroscience Research
|
September 18, 2016
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease
Carlos A Saavedra-Matiz, Paola Luzi, Matthew Nichols, et al.
International Journal of Neonatal Screening
|
June 2, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report
Camille S Corre, Dietrich Matern, Joan E Pellegrino, et al.
International Journal of Neonatal Screening
|
November 29, 2021
Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening
Robert J Sicko, Colleen F Stevens, Erin E Hughes, et al.
Orphanet Journal of Rare Diseases
|
February 20, 2019
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months
Maria L Beltran-Quintero, Nicholas A Bascou, Michele D Poe, et al.
Analytical Chemistry
|
March 18, 2025
Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight-Metabolome Correlations
Carter K Asef, Samuel G Moore, Charles Austin Pickens, et al.
European Journal of Pediatrics
|
August 22, 2015
Screening for cystic fibrosis in New York State: considerations for algorithm improvements
Denise M Kay, Breanne Maloney, Rhonda Hamel, et al.
Plos One
|
February 27, 2018
Analysis of age-related changes in psychosine metabolism in the human brain
Michael S Marshall, Benas Jakubauskas, Wil Bogue, et al.
Page
of 2