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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.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.Congenital Anomalies|March 23, 2024
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odysseyRebecca Bruns, Khurram Liaqat, Abdul Nasir, et al.Biochemistry|October 4, 2007
Amyloid-beta(1-42) rapidly forms protofibrils and oligomers by distinct pathways in low concentrations of sodium dodecylsulfateVijayaraghavan Rangachari, Brenda D Moore, Dana Kim Reed, et al.JIMD Reports|October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical FeaturesErin Conboy, Filippo Vairo, Matthew Schultz, et al.Pediatrics|November 25, 2018
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic PitfallsFilippo Pinto E Vairo, Erin Conboy, Carolina Fischinger Moura de Souza, et al.Molecular Genetics & Genomic Medicine|November 26, 2024
Performance of Dysmorphology-Based Screening for Genetic Disorders in Pediatric Congenital Heart Disease Supports Wider Genetic TestingBenjamin M Helm, Lindsey R Helvaty, Erin Conboy, et al.Journal of Medical Genetics|September 5, 2015
Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentiginesErin Conboy, Radhika Dhamija, Margaret Wang, et al.Pageof 4