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Orphanet Journal of Rare Diseases
|
September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2024
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability
Giulia McCorkell, Amy Nisselle, Donna Halton, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2026
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing
Hadley Stevens Smith, Martin Vu, Tamara Dangouloff, et al.
European Journal of Human Genetics : EJHG
|
July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
Tiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
JIMD Reports
|
April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies
Lauren S Akesson, Rocio Rius, Natasha J Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes
Melissa Martyn, Ling Lee, Alli Jan, et al.
BMJ Open
|
June 3, 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
Sophie E Bouffler, Ling Lee, Fiona Lynch, et al.
JAMA Neurology
|
March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Sarah U Morton, John Christodoulou, Gregory Costain, et al.
Neurology
|
December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
Sarah U Morton, Gregory Costain, Courtney E French, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Gemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Page
of 27
Search research articles
Search
Showing results (161-170 of 270) with videos related to
Sort By:
Page
of 27
Orphanet Journal of Rare Diseases
|
September 9, 2022
The role of exome sequencing in childhood interstitial or diffuse lung disease
Suzanna E L Temple, Gladys Ho, Bruce Bennetts, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 2, 2024
A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability
Giulia McCorkell, Amy Nisselle, Donna Halton, et al.
European Journal of Human Genetics : EJHG
|
June 3, 2026
Health economic evaluations of genomic newborn screening: Approaches by studies within the international consortium on newborn sequencing
Hadley Stevens Smith, Martin Vu, Tamara Dangouloff, et al.
European Journal of Human Genetics : EJHG
|
July 20, 2019
A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis
Tiong Yang Tan, Sebastian Lunke, Belinda Chong, et al.
JIMD Reports
|
April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies
Lauren S Akesson, Rocio Rius, Natasha J Brown, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 16, 2024
Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes
Melissa Martyn, Ling Lee, Alli Jan, et al.
BMJ Open
|
June 3, 2023
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol
Sophie E Bouffler, Ling Lee, Fiona Lynch, et al.
JAMA Neurology
|
March 7, 2022
Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review
Sarah U Morton, John Christodoulou, Gregory Costain, et al.
Neurology
|
December 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
Sarah U Morton, Gregory Costain, Courtney E French, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 29, 2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Gemma R Brett, Melissa Martyn, Fiona Lynch, et al.
Page
of 27