Search research articles
Contact Us
Filters
Showing results (11-20 of 101) with videos related to
Page
of 11
Sort By:
The Journal of Pediatrics
|
January 16, 2023
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies
Leah Bruno, Jerica Lenberg, Dzung Le, et al.
Human Gene Therapy
|
October 27, 2010
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
David Dimmock, Nicola Brunetti-Pierri, Donna J Palmer, et al.
BMC Neurology
|
November 24, 2017
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
Benedikt Schoser, Deborah A Bilder, David Dimmock, et al.
Neuromuscular Disorders : NMD
|
September 9, 2009
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations
James Collins, Kevin E Bove, David Dimmock, et al.
The Journal of Pediatrics
|
May 23, 2021
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption
Linda S Franck, Rebecca M Kriz, Seema Rego, et al.
Journal of General Internal Medicine
|
November 1, 2019
Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices
Joan Neuner, David Dimmock, Alison La Pean Kirschner, et al.
Scientific Reports
|
July 5, 2020
Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
Nanda Ramchandar, Yan Ding, Lauge Farnaes, et al.
Prenatal Diagnosis
|
February 10, 2022
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results
Kathy Zhang-Rutledge, Mallory Owen, Nathaly M Sweeney, et al.
Cold Spring Harbor Molecular Case Studies
|
November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
Benjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Plos One
|
January 26, 2023
The Genomic landscape of short tandem repeats across multiple ancestries
Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, et al.
Page
of 11
Search research articles
Search
Showing results (11-20 of 101) with videos related to
Sort By:
Page
of 11
The Journal of Pediatrics
|
January 16, 2023
Novel Approach to Improve the Identification of the Bleeding Phenotype in Noonan Syndrome and Related RASopathies
Leah Bruno, Jerica Lenberg, Dzung Le, et al.
Human Gene Therapy
|
October 27, 2010
Correction of hyperbilirubinemia in gunn rats using clinically relevant low doses of helper-dependent adenoviral vectors
David Dimmock, Nicola Brunetti-Pierri, Donna J Palmer, et al.
BMC Neurology
|
November 24, 2017
The humanistic burden of Pompe disease: are there still unmet needs? A systematic review
Benedikt Schoser, Deborah A Bilder, David Dimmock, et al.
Neuromuscular Disorders : NMD
|
September 9, 2009
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations
James Collins, Kevin E Bove, David Dimmock, et al.
The Journal of Pediatrics
|
May 23, 2021
Implementing Rapid Whole-Genome Sequencing in Critical Care: A Qualitative Study of Facilitators and Barriers to New Technology Adoption
Linda S Franck, Rebecca M Kriz, Seema Rego, et al.
Journal of General Internal Medicine
|
November 1, 2019
Results and Lessons of a Pilot Study of Cascade Screening for Familial Hypercholesterolemia in US Primary Care Practices
Joan Neuner, David Dimmock, Alison La Pean Kirschner, et al.
Scientific Reports
|
July 5, 2020
Diagnosis of cytomegalovirus infection from clinical whole genome sequencing
Nanda Ramchandar, Yan Ding, Lauge Farnaes, et al.
Prenatal Diagnosis
|
February 10, 2022
Retrospective identification of prenatal fetal anomalies associated with diagnostic neonatal genomic sequencing results
Kathy Zhang-Rutledge, Mallory Owen, Nathaly M Sweeney, et al.
Cold Spring Harbor Molecular Case Studies
|
November 9, 2018
Novel Factor XIII variant identified through whole-genome sequencing in a child with intracranial hemorrhage
Benjamin Briggs, Kiely N James, Shimul Chowdhury, et al.
Plos One
|
January 26, 2023
The Genomic landscape of short tandem repeats across multiple ancestries
Prashanth Vijayaraghavan, Sergey Batalov, Yan Ding, et al.
Page
of 11