Showing results (91-100 of 282) with videos related to
Sort By:
Pageof 29
JIMD Reports|April 18, 2022
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studiesLauren 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 outcomesMelissa 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 protocolSophie 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 ReviewSarah 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 StudySarah U Morton, Gregory Costain, Courtney E French, et al.European Journal of Human Genetics : EJHG|July 13, 2022
'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioningHilary Bowman-Smart, Danya F Vears, Gemma R Brett, et al.Journal of Evaluation in Clinical Practice|May 5, 2021
Teamwork in clinical genomics: A dynamic sociotechnical healthcare settingStephanie Best, Helen Brown, Zornitza Stark, 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 childrenGemma R Brett, Melissa Martyn, Fiona Lynch, et al.Journal of Thoracic Disease|October 18, 2016
The feasibility of molecular testing on cell blocks created from brush tip washings in the assessment of peripheral lung lesionsAsha Bonney, Michael Christie, Anne Beaty, et al.Scientific Reports|April 2, 2024
Clinically significant changes in genes and variants associated with epilepsy over time: implications for re-analysisAlan J Robertson, Khoa A Tran, Carmen Bennett, et al.Pageof 29