Showing results (1-10 of 9) with videos related to
Sort By:
Pageof 1
Prenatal Diagnosis|December 5, 2024
Going Back in Time: Prenatal Presentations of Postnatal Genetic Diagnoses Made in a Neonatal Intensive Care UnitMichael Duyzend, Malika Sud, Alissa M D'Gama, et al.Journal of Neurodevelopmental Disorders|August 30, 2014
Genomic studies in fragile X premutation carriersReymundo Lozano, Randi J Hagerman, Michael Duyzend, et al.Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
Lethal phenotypes in Mendelian disordersPilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 17, 2024
Lethal phenotypes in Mendelian disordersPilar Cacheiro, Samantha Lawson, Ignatia B Van den Veyver, et al.Clinical Chemistry|January 3, 2025
Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene ConditionsSophie Adams, Olivia Maher Trocki, Christina Miller, et al.Autism Research : Official Journal of the International Society for Autism Research|June 30, 2020
Evaluating heterogeneity in ASD symptomatology, cognitive ability, and adaptive functioning among 16p11.2 CNV carriersCaitlin M Hudac, Joanna Bove, Shelley Barber, et al.American Journal of Human Genetics|April 10, 2025
Advancing precision care in pregnancy through a treatable fetal findings listJennifer L Cohen, Michael Duyzend, Sophia M Adelson, et al.HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.Nucleic Acids Research|November 12, 2023
The Human Phenotype Ontology in 2024: phenotypes around the worldMichael A Gargano, Nicolas Matentzoglu, Ben Coleman, et al.Pageof 1