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Cold Spring Harbor Molecular Case Studies
|
October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastoma
Mari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
Cold Spring Harbor Molecular Case Studies
|
December 28, 2022
Rapid genome sequencing identifies novel variants in complement factor I
Katherine M Rodriguez, Jordan Vaught, Michelle Dilley, et al.
Circulation. Genomic and Precision Medicine
|
August 28, 2020
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease
Zahra Aryan, Attila Szanto, Angeliki Pantazi, et al.
Open Forum Infectious Diseases
|
July 29, 2021
Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections
Nanda Ramchandar, Jessica Burns, Nicole G Coufal, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Journal of Clinical and Translational Science
|
December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program
Sabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Nature
|
November 13, 2015
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis
Shiran Rabinovich, Lital Adler, Keren Yizhak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Yoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Nicola Longo, David Dimmock, Harvey Levy, et al.
Frontiers in Pediatrics
|
March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson, Austin Larson, Lisa Salz, et al.
Page
of 11
Search research articles
Search
Showing results (61-70 of 101) with videos related to
Sort By:
Page
of 11
Cold Spring Harbor Molecular Case Studies
|
October 19, 2019
Biallelic loss of <i>GNAS</i> in a patient with pediatric medulloblastoma
Mari J Tokita, Shareef Nahas, Benjamin Briggs, et al.
Cold Spring Harbor Molecular Case Studies
|
December 28, 2022
Rapid genome sequencing identifies novel variants in complement factor I
Katherine M Rodriguez, Jordan Vaught, Michelle Dilley, et al.
Circulation. Genomic and Precision Medicine
|
August 28, 2020
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease
Zahra Aryan, Attila Szanto, Angeliki Pantazi, et al.
Open Forum Infectious Diseases
|
July 29, 2021
Use of Metagenomic Next-Generation Sequencing to Identify Pathogens in Pediatric Osteoarticular Infections
Nanda Ramchandar, Jessica Burns, Nicole G Coufal, et al.
Molecular Genetics and Metabolism
|
April 15, 2018
Pegvaliase for the treatment of phenylketonuria: Results of a long-term phase 3 clinical trial program (PRISM)
Janet Thomas, Harvey Levy, Stephen Amato, et al.
Journal of Clinical and Translational Science
|
December 1, 2021
Addressing ethical and laboratory challenges for initiation of a rapid whole genome sequencing program
Sabrina Malone Jenkins, Rachel Palmquist, Ashley L Kapron, et al.
Nature
|
November 13, 2015
Diversion of aspartate in ASS1-deficient tumours fosters de novo pyrimidine synthesis
Shiran Rabinovich, Lital Adler, Keren Yizhak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 13, 2012
Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease
Yoav H Messinger, Nancy J Mendelsohn, William Rhead, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 15, 2018
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria
Nicola Longo, David Dimmock, Harvey Levy, et al.
Frontiers in Pediatrics
|
March 5, 2024
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting
Lauren Thompson, Austin Larson, Lisa Salz, et al.
Page
of 11