Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Lydia M. C. Green"'
Autor:
Marisa I. Mendes, Lydia M. C. Green, Enrico Bertini, Davide Tonduti, Chiara Aiello, Desiree Smith, Ettore Salsano, Shanice Beerepoot, Jozef Hertecant, Sarah vonSpiczak, John H. Livingston, Lisa Emrick, Jamie Fraser, Laura Russell, Genevieve Bernard, Stefania Magri, Daniela Di Bella, Franco Taroni, Mary K. Koenig, Isabella Moroni, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Jullie Rhee, Bryce A. Mendelsohn, Ingo Helbig, Katherine Helbig, Hiltrud Muhle, Omar Ismayl, Adeline L. Vanderver, Gajja S. Salomons, Marjo S. van derKnaap, Nicole I. Wolf
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 83-93 (2020)
Abstract Objective Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with R
Externí odkaz:
https://doaj.org/article/0451d47dda844ada9b1700050648a958
Publikováno v:
Archives of disease in childhood - Education & practice edition. 103:267-273
The ability to interact with children and young people (CYP), appropriately examine and competently interpret signs is an essential skill for many medical practitioners and allied healthcare professionals; yet, how do we ensure competence in our stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::302f21d51a323d56a4fee66e47a44ae9
https://doi.org/10.1136/archdischild-2017-313368
https://doi.org/10.1136/archdischild-2017-313368