Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lauren E Taylor"'
Autor:
Susan M. White, Joy Yaplito-Lee, Marzena Walkiewicz, Cas Simons, Maelle Le Moing, Maria Fuller, Victoria Rodriguez-Casero, Gabriel Dabscheck, Stefanie Eggers, Guy Helman, Lauren E Taylor
Publikováno v:
European Journal of Medical Genetics. 64:104259
RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing, providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 disease. We describe an individual with a presentation suggestive of an attenuated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df5d00f1ced856690436c6cd4d9a6640
https://doi.org/10.1016/j.ejmg.2021.104259
https://doi.org/10.1016/j.ejmg.2021.104259
Publikováno v:
Journal of Paediatrics and Child Health. 53:1013-1014
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::52930d08349eceb9332ccaa74c369b0d
https://doi.org/10.1111/jpc.13606
https://doi.org/10.1111/jpc.13606