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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.
JAMA Network Open|May 26, 2021
Assessment of the Implementation of Pharmacogenomic Testing in a Pediatric Tertiary Care SettingIris Cohn, Roozbeh Manshaei, Eriskay Liston, et al.
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