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Applied & Translational Genomics|March 4, 2016
Patients' views on incidental findings from clinical exome sequencingKristin E Clift, Colin M E Halverson, Alexander S Fiksdal, et al.Cold Spring Harbor Molecular Case Studies|May 9, 2023
A familial SAMD9 variant present in pediatric myelodysplastic syndromeMahvish Q Rahim, April Rahrig, Kathleen Overholt, et al.Cold Spring Harbor Molecular Case Studies|January 29, 2022
Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) programAnnalise Jacobs, Catherine Burns, Purva Patel, et al.Genetic Testing and Molecular Biomarkers|April 18, 2025
Uncovering a Diagnosis Through Reanalysis of UBA2 Variants in a Patient with Syndactyly, Polydactyly, and Aplasia Cutis Congenita: A Short Report and a Review of the LiteratureKhurram Liaqat, Kimberly Felipe, Kayla Treat, et al.American Journal of Medical Genetics. Part A|December 22, 2023
A case of MBTPS1-related disorder due to compound heterozygous variants in MBTPS1 gene: Genotype-phenotype expansion and the emergence of a novel syndromeKhurram Liaqat, Kayla Treat, Lili Mantcheva, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 20, 2020
Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experienceColin M E Halverson, Harris T Bland, Kathleen A Leppig, et al.Journal of Pediatric Hematology/Oncology|July 6, 2017
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic VariantErin Conboy, Paige I Partain, Deepti Warad, et al.Clinical Genetics|March 28, 2025
Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This FamilyKhurram Liaqat, Kayla Treat, Lili Mantcheva, et al.Case Reports in Genetics|May 11, 2017
Pathogenic Variant in ACTB, p.Arg183Trp, Causes Juvenile-Onset Dystonia, Hearing Loss, and Developmental Delay without Midline MalformationErin Conboy, Filippo Vairo, Darrel Waggoner, et al.Pharmacogenomics|September 18, 2025
Assessing patient understanding of pharmacogenomic test results: a qualitative studyTom A Doyle, Samantha L Vershaw, Karen K Schmidt, et al.Pageof 7