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Human Mutation|February 7, 2015
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypesMaría Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, et al.
Nature|March 7, 2022
Whole-genome sequencing reveals host factors underlying critical COVID-19Athanasios Kousathanas, Erola Pairo-Castineira, Konrad Rawlik, et al.
The European Respiratory Journal|June 21, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasisAmelia Shoemark, Helen Griffin, Gabrielle Wheway, et al.
Science Advances|April 28, 2023
The genomic landscape of familial gliomaDong-Joo Choi, Georgina Armstrong, Brittney Lozzi, et al.
The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.
Physical Review Letters|August 26, 2022
Lawson Criterion for Ignition Exceeded in an Inertial Fusion ExperimentH Abu-Shawareb, R Acree, P Adams, et al.
Physical Review Letters|February 23, 2024
Achievement of Target Gain Larger than Unity in an Inertial Fusion ExperimentH Abu-Shawareb, R Acree, P Adams, et al.
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