Showing results (41-50 of 48) with videos related to
Sort By:
Pageof 5
You have reached the last page of results.This site can display upto 48 results.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2013
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemiaJana Vandrovcova, Ellen R A Thomas, Santosh S Atanur, et al.Genome Medicine|October 30, 2024
Cardiomyopathies in 100,000 genomes project: interval evaluation improves diagnostic yield and informs strategies for ongoing gene discoveryKatherine S Josephs, Eleanor G Seaby, Philippa May, et al.BMC Medical Genetics|June 25, 2014
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based studyPenny J Norsworthy, Jana Vandrovcova, Ellen R A Thomas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2021
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosisZerin Hyder, Eduardo Calpena, Yang Pei, et al.Clinical Genetics|August 19, 2014
Phenotypic spectrum associated with PTCHD1 deletions and truncating mutations includes intellectual disability and autism spectrum disorderA Chaudhry, A Noor, B Degagne, et al.American Journal of Human Genetics|July 30, 2021
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolutionZornitza Stark, Rebecca E Foulger, Eleanor Williams, 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.Pageof 5