Showing results (11-20 of 24) with videos related to
Sort By:
Pageof 3
Clinical Chemistry|July 23, 2022
Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing TechnologiesLisa A Lansdon, Maxime Cadieux-Dion, John C Herriges, et al.Plos Genetics|April 13, 2018
Global characterization of copy number variants in epilepsy patients from whole genome sequencingJean Monlong, Simon L Girard, Caroline Meloche, et al.The Journal of Molecular Diagnostics : JMD|February 25, 2021
Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation SequencingLisa A Lansdon, Maxime Cadieux-Dion, Byunggil Yoo, et al.Neurology|July 15, 2016
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)Samuel F Berkovic, John F Staropoli, Stirling Carpenter, et al.Medrxiv : the Preprint Server for Health Sciences|March 3, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.Plos Genetics|June 14, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humansZeineb Bakey, Oscar A Cabrera, Julia Hoefele, et al.Science Advances|February 4, 2020
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancerKezhi Yan, Justine Rousseau, Keren Machol, et al.American Journal of Human Genetics|July 30, 2019
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental DisordersBjörn Fischer-Zirnsak, Lara Segebrecht, Max Schubach, et al.American Journal of Human Genetics|April 2, 2019
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial DysmorphismIllja J Diets, Roos van der Donk, Kristina Baltrunaite, et al.Nature Communications|September 10, 2024
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviorsJana Willim, Daniel Woike, Daniel Greene, et al.Pageof 3