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1 . Academic Journal
Focal segmental glomerulosclerosis and mild intellectual disability in a patient with a novel de novo truncating TRIM8 mutation
저자
by
McClatchey, Martin A.
;
du Toit, Zachary D.
;
Vaughan, Rhys
;
Whatley, Sharon D.
;
Martins, Sara
, et al.
소스
In
European Journal of Medical Genetics
September 2020 63(9)
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7 . Academic Journal
Antineurofascin IgG2‐associated paediatric autoimmune nodopathy.
저자
by
Harris, Rachel E.
;
Atherton, Mark
;
Naude, Johann Te Water
;
Bird‐Lieberman, Georgina A.
;
Ramdas, Sithara
, et al.
소스
Developmental Medicine & Child Neurology
. Aug2023, Vol. 65 Issue 8, p1118-1122. 5p.
Scopus
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7 . Academic Journal
SUDDEN UNEXPECTED DEATH IN EPILEPSY INFORMATION PROVISION TO PARENTS OF CHILDREN WITH EPILEPSY–A SERVICE EVALUATION
저자
by
Jones, Lliwen
;
Naude, Johann Te Water
.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. Nov 01, 2013 84(11):e2-e2
Full Text (BMJ Journals)
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4 .
Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation
저자
by
Ashikov, Angel
;
Bakar, Nurulamin Abu
;
Wen, Xiao Yan
;
Niemeijer, Marco
;
Osorio, Glentino Rodrigues Pinto
, et al.
소스
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7 . Academic Journal
Long-term outcome of paediatric-onset multiple sclerosis: a population-based study.
저자
by
Harding, Katharine E.
;
Liang, Kate
;
Cossburn, Mark D.
;
Ingram, Gillian
;
Hirst, Claire L.
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. Feb2013, Vol. 84 Issue 2, p141-147. 7p. 3 Charts, 3 Graphs.
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7 . Academic Journal
Benign childhood epilepsy with centrotemporal spikes (BECTS) and developmental co-ordination disorder
저자
by
Kirby, Amanda
;
Williams, Natalie
;
Koelewijn, Loes
;
Brindley, Lisa M.
;
Muthukumaraswamy, Suresh D.
, et al.
소스
EPILEPSY & BEHAVIOR
; JUL 2017, 72 p122-p126, 5p.
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7 .
Additional file 1: Table S1. of Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
저자
by
Fry, Andrew
;
Rees, Elliott
;
Thompson, Rose
;
Mantripragada, Kiran
;
Blake, Penny
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
저자
by
Fry, Andrew E.
;
Rees, Elliott
;
Thompson, Rose
;
Mantripragada, Kiran
;
Blake, Penny
, et al.
소스
BMC MEDICAL GENETICS
; APR 26 2016, 17 p34 9p.
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7 . Academic Journal
Resting-State Oscillatory Dynamics in Sensorimotor Cortex in Benign Epilepsy With Centro-Temporal Spikes and Typical Brain Development
저자
by
Koelewijn, Loes
;
Hamandi, Khalid
;
Brindley, Lisa M.
;
Brookes, Matthew J.
;
Routley, Bethany C.
, et al.
소스
HUMAN BRAIN MAPPING
; OCT 2015, 36 10, p3935-p3949, 15p.
Open Access (Wiley)
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7 . Academic Journal
Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
저자
by
Crow, Yanick J.
;
Chase, Diana S.
;
Schmidt, Johanna Lowenstein
;
Szynkiewicz, Marcin
;
Forte, Gabriella M. A.
, et al.
소스
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
; FEB 2015, 167 2, p296-p312, 17p.
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