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Revista Espanola De Cardiologia (English Ed.)|April 30, 2014
Personalized medicine: genetic diagnosis for inherited cardiomyopathies/channelopathiesMichael J Ackerman, Cherisse A Marcou, David J TesterJournal of Pathology Informatics|December 25, 2024
Enhancing human phenotype ontology term extraction through synthetic case reports and embedding-based retrieval: A novel approach for improved biomedical data annotationAbdulkadir Albayrak, Yao Xiao, Piyush Mukherjee, et al.American Journal of Medical Genetics. Part A|August 21, 2020
Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked by UPDKarthik Muthusamy, Erica L Macke, Eric W Klee, et al.Prenatal Diagnosis|April 11, 2025
Artifacts, Not Differences in Sex Development, Are the Predominant Cause of Phenotypic Sex Discordance With Prenatal Cell-Free DNA Screening: A Review of 33 CasesQiliang Ding, Nicole L Hoppman, Erik C Thorland, et al.Case Reports in Endocrinology|June 8, 2026
21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental IsodisomyMichelle L Kluge, Lynn Schema, Katy Schroepfer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Limited diagnostic impact of duplications <1 Mb of uncertain clinical significance: a 10-year retrospective analysis of reporting practices at the Mayo ClinicCherisse A Marcou, Beth Pitel, Clinton E Hagen, et al.Heart Rhythm|October 8, 2013
FGF12 is a candidate Brugada syndrome locusJessica A Hennessey, Cherisse A Marcou, Chuan Wang, et al.Journal of the American College of Cardiology|July 31, 2012
Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testingLia Crotti, Cherisse A Marcou, David J Tester, et al.Oncotarget|December 8, 2017
Assessment of pancreatic neuroendocrine tumor cytologic genotype diversity to guide personalized medicine using a custom gastroenteropancreatic next-generation sequencing panelFerga C Gleeson, Jesse S Voss, Benjamin R Kipp, et al.American Journal of Clinical Pathology|February 10, 2025
Follow the LINE: A novel case of dilated cardiomyopathy caused by a LINE-1 insertion in the TTN geneQiliang Ding, Jenna Fine, Frank T Hoffman, et al.Pageof 2