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Forensic Science International|December 5, 2020
Chemical and statistical analyses of blotter paper matrix drugs seized in the State of Rio de JaneiroVinícius L Meira, Adriana S de Oliveira, Luciana S A Cohen, et al.
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.
Cold Spring Harbor Molecular Case Studies|June 12, 2021
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayRam Singh, Ana S A Cohen, Cathryn Poulton, 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.
Human Mutation|December 24, 2015
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In VitroAna S A Cohen, Damian B Yap, M E Suzanne Lewis, et al.
Brain : a Journal of Neurology|August 11, 2022
Variants in the zinc transporter TMEM163 cause a hypomyelinating leukodystrophyMichelle C do Rosario, Guillermo Rodriguez Bey, Bruce Nmezi, et al.
American Journal of Medical Genetics. Part A|June 7, 2014
Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosisAna S A Cohen, Katelin N Townsend, Qing-San Xiang, et al.
Nature Communications|December 23, 2015
NSD1 mutations generate a genome-wide DNA methylation signatureS Choufani, C Cytrynbaum, B H Y Chung, et al.
Human Mutation|October 17, 2025
One-Sided Matching Portal (OSMP): A Tool to Facilitate Rare Disease Patient MatchmakingMatthew Osmond, E Magda Price, Orion J Buske, et al.
Nature Communications|May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohortWarren A Cheung, Adam F Johnson, William J Rowell, et al.
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