Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Natalie C. Lippa"'
Publikováno v:
BMC Neurology, Vol 21, Iss 1, Pp 1-4 (2021)
Abstract Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability in males. Other features in males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to
Externí odkaz:
https://doaj.org/article/373a2e3506914968af5df3d35a2b1f86
Autor:
Jordana L. Graifman, Natalie C. Lippa, Maureen S. Mulhern, Amanda L. Bergner, Tristan T. Sands
Publikováno v:
Epilepsia. 64:986-997
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11adb9554b3bcdf725b6d805b084c7ae
https://doi.org/10.1111/epi.17534
https://doi.org/10.1111/epi.17534
Autor:
Joshua E. Motelow, Natalie C. Lippa, Joseph Hostyk, Evin Feldman, Matthew Nelligan, Zhong Ren, Anna Alkelai, Joshua D. Milner, Ali G. Gharavi, Yingying Tang, David B. Goldstein, Steven G. Kernie
Rapid genetic sequencing is an established and important clinical tool for management of pediatric critical illness. The burden of risk variants in children with critical illness but a non-diagnostic exome has not been explored. This was a retrospect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0513439b3d5c4851b799cc3a7433ce9c
https://doi.org/10.1101/2022.05.01.22274445
https://doi.org/10.1101/2022.05.01.22274445
Autor:
Joshua E, Motelow, Natalie C, Lippa, Joseph, Hostyk, Evin, Feldman, Matthew, Nelligan, Zhong, Ren, Anna, Alkelai, Joshua D, Milner, Ali G, Gharavi, Yingying, Tang, David B, Goldstein, Steven G, Kernie
Publikováno v:
JAMA Network Open. 5:e2239122
ImportanceDiagnostic genetic testing can lead to changes in management in the pediatric intensive care unit. Genetic risk in children with critical illness but nondiagnostic exome sequencing (ES) has not been explored.ObjectiveTo assess the associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5997b98a997479d5e758ccfe04fa5708
https://doi.org/10.1001/jamanetworkopen.2022.39122
https://doi.org/10.1001/jamanetworkopen.2022.39122