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American Journal of Medical Genetics. Part A|September 12, 2025
Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome AnalysisMakenna DuBois, Katherine Dixon, Charlotte Sherlaw-Sturrock, et al.
The Canadian Journal of Cardiology|January 28, 2014
Exome sequencing identifies a novel variant in ACTC1 associated with familial atrial septal defectSteven C Greenway, Ross McLeod, Stacey Hume, et al.
Science Advances|October 13, 2021
Copy-scAT: Deconvoluting single-cell chromatin accessibility of genetic subclones in cancerAna Nikolic, Divya Singhal, Katrina Ellestad, et al.
The American Journal of Surgical Pathology|June 4, 2016
ETV6-NTRK3 Is Expressed in a Subset of ALK-Negative Inflammatory Myofibroblastic TumorsAli H Alassiri, Rola H Ali, Yaoqing Shen, et al.
Orphanet Journal of Rare Diseases|January 29, 2014
A novel recurrent mutation in ATP1A3 causes CAPOS syndromeMichelle K Demos, Clara Dm van Karnebeek, Colin Jd Ross, et al.
Cold Spring Harbor Molecular Case Studies|November 18, 2018
Whole-genome and transcriptome profiling of a metastatic thyroid-like follicular renal cell carcinomaJenny J Ko, Jasleen K Grewal, Tony Ng, et al.
Journal of Medical Genetics|May 30, 2025
Using long-read sequencing to detect and subtype a case with Temple syndromeSarah Dada, Vahid Akbari, Duha Hejla, et al.
Clinical Case Reports|March 26, 2021
NTRK2 Fusion driven pediatric glioblastoma: Identification of oncogenic Drivers via integrative Genome and transcriptome profilingHeidi M Britton, Adrian B Levine, Yaoqing Shen, et al.
The Journal of Cell Biology|October 19, 2017
RECQ-like helicases Sgs1 and BLM regulate R-loop-associated genome instabilityEmily Yun-Chia Chang, Carolina A Novoa, Maria J Aristizabal, et al.
American Journal of Medical Genetics. Part A|September 13, 2017
Compound heterozygous TRPV4 mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathyMy Linh Thibodeau, Colin H Peters, Katelin N Townsend, et al.
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