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pro vyhledávání: '"Samuel Frank Berkovic"'
Autor:
Mark James Cook, Andrea eVarsavsky, David eHimes, Kent eLeyde, Samuel Frank Berkovic, Terence eO'Brien, Iven eMareels
Publikováno v:
Frontiers in Neurology, Vol 5 (2014)
The pattern of epileptic seizures is often considered unpredictable, and the interval between events without correlation. A number of studies have examined the possibility that seizure activity, both in terms of event magnitude and inter-event interv
Externí odkaz:
https://doaj.org/article/e30aa1491bd44ca5b7d48518d15bbc43
Autor:
Andrew Paul Fennell, Anne Elizabeth Baxter, Samuel Frank Berkovic, Carolyn Jane Ellaway, Caitlin Forwood, Michael Stephen Hildebrand, Smitha Kumble, Colina McKeown, David Mowat, Gemma Poke, Sulekha Rajagopalan, Brigid M. Regan, Ingrid Eileen Scheffer, Zornitza Stark, Chloe Alice Stutterd, Tiong Yang Tan, Ella Jane Wilkins, Alison Yeung, Matthew Frank Hunter
Publikováno v:
American Journal of Medical Genetics Part A. 188:3432-3447
Verheij syndrome (VRJS) is a rare craniofacial spliceosomopathy presenting with craniofacial dysmorphism, multiple congenital anomalies and variable neurodevelopmental delay. It is caused by single nucleotide variants (SNVs) in PUF60 or interstitial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25bcb43ff4dcbc259aec3ea8610fceef
https://doi.org/10.1002/ajmg.a.62950
https://doi.org/10.1002/ajmg.a.62950