Journal

Oxford medical case reports
ISSN: 2053-8855
Titre abrégé: Oxf Med Case Reports
Pays: England
ID NLM: 101642070

Informations de publication

Date de publication:
May 2021
Historique:
received: 22 12 2020
revised: 29 01 2021
accepted: 20 03 2021
entrez: 31 5 2021
pubmed: 1 6 2021
medline: 1 6 2021
Statut: epublish

Résumé

Germline and 2-hit brain somatic variants in

Identifiants

pubmed: 34055363
doi: 10.1093/omcr/omab027
pii: omab027
pmc: PMC8143668
doi:

Types de publication

Case Reports

Langues

eng

Pagination

omab027

Informations de copyright

© The Author(s) 2021. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

Références

Acta Neuropathol. 2019 Dec;138(6):901-912
pubmed: 31377847
J Clin Invest. 2018 Jun 1;128(6):2452-2458
pubmed: 29708508
Genet Med. 2019 Feb;21(2):398-408
pubmed: 30093711
Neurol Genet. 2015 Jul 23;1(2):e17
pubmed: 27066554
Ann Neurol. 2015 Apr;77(4):720-5
pubmed: 25599672
Front Neurosci. 2020 Aug 11;14:821
pubmed: 32848577
Ann Neurol. 2015 Apr;77(4):675-83
pubmed: 25623524
Ann Neurol. 2016 Jan;79(1):120-31
pubmed: 26505888

Auteurs

Joana Jesus-Ribeiro (J)

Epilepsy and Sleep Monitoring Unit, Neurology Department, Coimbra University Hospital Center, Coimbra 3000, Portugal.
iCBR/CIMAGO, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.

Cristina Pereira (C)

Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
Pediatric Neurology of Child Development Center, Pediatric Hospital, Coimbra University Hospital Center, Coimbra 3000, Portugal.

Conceição Robalo (C)

Pediatric Neurology of Child Development Center, Pediatric Hospital, Coimbra University Hospital Center, Coimbra 3000, Portugal.

Daniela J Pereira (DJ)

Neuroradiology Department, Coimbra University Hospital Center, Coimbra 3000, Portugal.

Diana Duro (D)

Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
Neurology Department, Coimbra University Hospital Center, Coimbra 3000, Portugal.

Fabiana Ramos (F)

Medical Genetics Unit, Pediatric Hospital, Coimbra University Hospital Center, Coimbra 3000, Portugal.

António Freire (A)

Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
Neurology Department, Luz Hospital, Coimbra 3000, Portugal.

Joana B Melo (JB)

iCBR/CIMAGO, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.
Laboratory of Cytogenetics and Genomics, Faculty of Medicine, University of Coimbra, Coimbra 3000, Portugal.

Classifications MeSH