Showing results (11-20 of 22) with videos related to

Sort By:
Pageof 3
American Journal of Medical Genetics. Part A|March 27, 2015
Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndromeEsra Dikoglu, Ali Alfaiz, Maria Gorna, et al.
Nature Protocols|November 18, 2016
Indel variant analysis of short-read sequencing data with ScalpelHan Fang, Ewa A Bergmann, Kanika Arora, et al.
The Journal of Molecular Diagnostics : JMD|August 24, 2018
Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in CancerKazimierz O Wrzeszczynski, Vanessa Felice, Avinash Abhyankar, et al.
American Journal of Human Genetics|November 5, 2016
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone LissencephalyJulie Jerber, Maha S Zaki, Jumana Y Al-Aama, et al.
The New England Journal of Medicine|June 30, 2016
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's DiseasePelin O Simsek Kiper, Hiroaki Saito, Francesca Gori, et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc|August 5, 2017
Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinomaOlca Basturk, Michael F Berger, Hiroshi Yamaguchi, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2020
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI)Carlos R Ferreira, Mary E Hackbarth, Shira G Ziegler, et al.
Frontiers in Immunology|December 27, 2021
Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A CaseKevin M Vannella, Cihan Oguz, Sydney R Stein, et al.
BMC Medical Genomics|April 27, 2019
Sequencing and curation strategies for identifying candidate glioblastoma treatmentsMayu O Frank, Takahiko Koyama, Kahn Rhrissorrakrai, et al.
BMC Medical Genomics|August 4, 2019
Correction to: Sequencing and curation strategies for identifying candidate glioblastoma treatmentsMayu O Frank, Takahiko Koyama, Kahn Rhrissorrakrai, et al.
Pageof 3