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Neuron|October 25, 2016
Branch-Specific Microtubule Destabilization Mediates Axon Branch Loss during Neuromuscular Synapse EliminationMonika S Brill, Tatjana Kleele, Laura Ruschkies, et al.NPJ Genomic Medicine|November 29, 2025
UBR5 loss-of-function variants in autism spectrum disorder and intellectual disability: case series and review of the literatureMiriam S Reuter, Nelson Bautista Salazar, Jennifer L Howe, et al.Communications Biology|July 22, 2023
Decreased left heart flow in fetal lambs causes left heart hypoplasia and pro-fibrotic tissue remodelingMiriam S Reuter, Dustin J Sokolowski, J Javier Diaz-Mejia, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2022
Trio genome sequencing for developmental delay and pediatric heart conditions: A comparative microcost analysisJathishinie Jegathisawaran, Kate Tsiplova, Robin Z Hayeems, et al.American Journal of Medical Genetics. Part A|August 16, 2014
NDST1 missense mutations in autosomal recessive intellectual disabilityMiriam S Reuter, Luciana Musante, Hao Hu, et al.American Journal of Human Genetics|July 9, 2016
Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive MicrocephalyMartin W Breuss, Tipu Sultan, Kiely N James, et al.The Journal of Antimicrobial Chemotherapy|November 26, 2005
Caspofungin treatment in severely ill, immunocompromised patients: a case-documentation study of 118 patientsA Glasmacher, O A Cornely, K Orlopp, et al.Journal of Medical Genetics|August 31, 2016
FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrumMiriam S Reuter, Angelika Riess, Ute Moog, et al.American Journal of Human Genetics|January 6, 2018
A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence DataBrett Trost, Susan Walker, Zhuozhi Wang, et al.Pediatric Research|September 27, 2022
Pharmacogenetic profiling via genome sequencing in children with medical complexityAmy Pan, Sierra Scodellaro, Tayyaba Khan, et al.Pageof 18