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Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Frontiers in Genetics|October 28, 2020
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome SequencesRoozbeh Manshaei, Daniele Merico, Miriam S Reuter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 11, 2020
The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart diseaseMiriam S Reuter, Rajiv R Chaturvedi, Eriskay Liston, et al.
Frontiers in Genetics|December 18, 2020
A Distributed Whole Genome Sequencing Benchmark StudyRichard D Corbett, Robert Eveleigh, Joe Whitney, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.
European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.
Medrxiv : the Preprint Server for Health Sciences|January 18, 2024
Genetic variants in DDX53 contribute to Autism Spectrum Disorder associated with the Xp22.11 locusMarcello Scala, Clarrisa A Bradley, Jennifer L Howe, et al.
Nature Communications|October 30, 2022
Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorderAda J S Chan, Worrawat Engchuan, Miriam S Reuter, et al.
JAMA Psychiatry|January 19, 2017
Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental DisordersMiriam S Reuter, Hasan Tawamie, Rebecca Buchert, et al.
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