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Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis
Erica Sanford, Marilyn C Jones, Matthew Brigger, et al.
The Journal of Pediatrics
|
June 1, 2023
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria
Mitzie L Grant, Elaina R Jurecki, Shawn E McCandless, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 2, 2015
Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants
Venkatesh Sampath, Daniel Helbling, Heather Menden, et al.
Pediatric Research
|
December 18, 2014
Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants
Venkatesh Sampath, Jeffery S Garland, Daniel Helbling, et al.
Mitochondrion
|
November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
Jack Q Ji, David Dimmock, Lin-Ya Tang, et al.
Clinical Therapeutics
|
July 10, 2023
Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining
Julie A Cakici, David Dimmock, Sara Caylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy
Nicola Longo, Komudi Siriwardena, Annette Feigenbaum, et al.
Genome Medicine
|
May 29, 2020
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Christian R Marshall, David Bick, John W Belmont, et al.
Implementation Science : IS
|
November 25, 2015
Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study
R Ryanne Wu, Rachel A Myers, Catherine A McCarty, et al.
NPJ Genomic Medicine
|
November 6, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
Stephen F Kingsmore, Audrey Henderson, Mallory J Owen, et al.
Page
of 11
Search research articles
Search
Showing results (31-40 of 101) with videos related to
Sort By:
Page
of 11
Cold Spring Harbor Molecular Case Studies
|
October 8, 2020
Postmortem diagnosis of PPA2-associated sudden cardiac death from dried blood spot in a neonate presenting with vocal cord paralysis
Erica Sanford, Marilyn C Jones, Matthew Brigger, et al.
The Journal of Pediatrics
|
June 1, 2023
Neuropsychiatric Function Improvement in Pediatric Patients with Phenylketonuria
Mitzie L Grant, Elaina R Jurecki, Shawn E McCandless, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
October 2, 2015
Necrotizing Enterocolitis Is Not Associated With Sequence Variants in Antioxidant Response Genes in Premature Infants
Venkatesh Sampath, Daniel Helbling, Heather Menden, et al.
Pediatric Research
|
December 18, 2014
Antioxidant response genes sequence variants and BPD susceptibility in VLBW infants
Venkatesh Sampath, Jeffery S Garland, Daniel Helbling, et al.
Mitochondrion
|
November 11, 2009
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping
Jack Q Ji, David Dimmock, Lin-Ya Tang, et al.
Clinical Therapeutics
|
July 10, 2023
Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining
Julie A Cakici, David Dimmock, Sara Caylor, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 19, 2014
Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy
Nicola Longo, Komudi Siriwardena, Annette Feigenbaum, et al.
Genome Medicine
|
May 29, 2020
The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic
Christian R Marshall, David Bick, John W Belmont, et al.
Implementation Science : IS
|
November 25, 2015
Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study
R Ryanne Wu, Rachel A Myers, Catherine A McCarty, et al.
NPJ Genomic Medicine
|
November 6, 2020
Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing
Stephen F Kingsmore, Audrey Henderson, Mallory J Owen, et al.
Page
of 11