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1 . Academic Journal
Updates in SJS/TEN: collaboration, innovation, and community
저자
by
Madeline E. Marks
;
Ramya Krishna Botta
;
Riichiro Abe
;
Thomas M. Beachkofsky
;
Isabelle Boothman
, et al.
소스
Frontiers in Medicine, Vol 10 (2023)
Open Access (DOAJ)
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7 . Academic Journal
Evolutionary history of Tibetans inferred from whole-genome sequencing.
저자
by
Hao Hu
;
Nayia Petousi
;
Gustavo Glusman
;
Yao Yu
;
Ryan Bohlender
, et al.
소스
PLoS Genetics, Vol 13, Iss 4, p e1006675 (2017)
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7 .
Whole exome sequencing studies in epilepsy: A deep analysis of the published literature
저자
by
Arif Shukralla
;
Robert Carton
;
Katherine A. Benson
;
Hany El Naggar
;
Austin Lacey
, et al.
소스
American Journal of Medical Genetics Part A
. 188:1407-1419
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7 .
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture
저자
by
Andreas Schulze-Bonhage
;
Patrick May
;
Samuel Berkovic
;
Lorenzo Ferri
;
Monica Gagliardi
, et al.
소스
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7 .
Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank
저자
by
Edmund Gilbert
;
Ashwini Shanmugam
;
Gianpiero Cavalleri
.
소스
Proceedings of the National Academy of Sciences
. 119
Full Text (PNAS)
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5 .
252 Whole exome sequencing in epilepsy: quality of reporting in literature
저자
by
Arif Shukralla
;
Austin Lacey
;
Hany El Naggar
;
Gianpiero Cavalleri
;
Norman Delanty
.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. 93:A86.2-A86
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7 .
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
저자
by
Ingrid Scheffer
;
Colleen Campbell
;
Samuel Berkovic
;
Laura Jansen
;
Susannah Cornes
, et al.
소스
Epilepsia
Epilepsia, Vol. 60, no.5, p. 797-806 (2019)
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7 .
Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy
저자
by
Graham Neil Thomas
;
Remi Stevelink
;
Ingrid Scheffer
;
Andreja Avbersek
;
Thomas Ferraro
, et al.
소스
MOLECULAR GENETICS AND METABOLISM REPORTS
Molecular Genetics and Metabolism Reports, 21. Elsevier BV
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
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7 .
Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. Reply
저자
by
Josemir Sander
;
Patrick May
;
Rudi Balling
;
Eduardo Pérez-Palma
;
Karl Martin Klein
, et al.
소스
The New England journal of medicine
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7 .
Corrigendum to: Polygenic burden in focal and generalized epilepsies
저자
by
Remi Stevelink
;
Gianpiero Cavalleri
.
소스
Brain
Full Text (OUP)
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