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pro vyhledávání: '"Sarah E, Hurst"'
Autor:
Sarah E, Hurst, Erika, Liktor-Busa, Aubin, Moutal, Sara, Parker, Sydney, Rice, Szabolcs, Szelinger, Grant, Senner, Michael F, Hammer, Laurel, Johnstone, Keri, Ramsey, Vinodh, Narayanan, Samantha, Perez-Miller, May, Khanna, Heather, Dahlin, Karen, Lewis, David, Craig, Edith H, Wang, Rajesh, Khanna, Mark A, Nelson
Publikováno v:
Neuronal Signaling
We investigated the genome of a 5-year-old male who presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia of unknown origin. Whole genome sequencing (WGS) and mRNA sequencing (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1b1810f662d9266fdabcd9ef46980a1b
https://pubmed.ncbi.nlm.nih.gov/32714589
https://pubmed.ncbi.nlm.nih.gov/32714589
