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American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 11, 2011
Disorders of creatine transport and metabolismNicola Longo, Orly Ardon, Rena Vanzo, et al.Journal of Community Genetics|February 11, 2015
Variants of unknown significance on chromosomal microarray analysis: parental perspectivesStephanie Jez, Megan Martin, Sarah South, et al.European Journal of Medical Genetics|April 24, 2012
Mosaicism in Stickler syndromeDavid A Stevenson, Rena Vanzo, Kristy Damjanovich, et al.Plos One|December 31, 2016
Clinical Utility of a Comprehensive, Whole Genome CMA Testing Platform in Pediatrics: A Prospective Randomized Controlled Trial of Simulated Patients in Physician PracticesJohn Peabody, Megan Martin, Lisa DeMaria, et al.Scientific Reports|April 1, 2022
NeuroSCORE is a genome-wide omics-based model that identifies candidate disease genes of the central nervous systemKyle W Davis, Colleen G Bilancia, Megan Martin, et al.Biomed Research International|December 16, 2016
Clinical Performance of an Ultrahigh Resolution Chromosomal Microarray Optimized for Neurodevelopmental DisordersKaren S Ho, Hope Twede, Rena Vanzo, et al.Plos Currents|March 31, 2017
Analytical and Clinical Validity Study of FirstStepDx PLUS: A Chromosomal Microarray Optimized for Patients with Neurodevelopmental ConditionsCharles Hensel, Rena Vanzo, Megan Martin, et al.Neurology. Genetics|February 12, 2020
Critical exon indexing improves clinical interpretation of copy number variants in neurodevelopmental disordersE Robert Wassman, Karen S Ho, Diana Bertrand, et al.American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.Journal of Medical Genetics|April 6, 2017
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspectsKonrad Platzer, Hongjie Yuan, Hannah Schütz, et al.Pageof 1