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Year
Year
-Year
2011
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2014
2015
2016
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2018
2019
Article
Duplication and deletion upstream of
LMNB1
in autosomal dominant adult-onset leukodystrophy
Naomi
Mezaki
,
Takeshi
Miura
,
Kotaro
Ogaki
, et al.
December 07, 2018
Editorial
The complex structure of
ATXN2
genetic variation
Stefan M.
Pulst
December 06, 2018
Article
Development of a rapid functional assay that predicts GLUT1 disease severity
Sasha M.
Zaman
,
Saul A.
Mullen
,
Slavé
Petrovski
, et al.
December 06, 2018
Article
Brain somatic mutations in
SLC35A2
cause intractable epilepsy with aberrant N-glycosylation
Nam Suk
Sim
,
Youngsuk
Seo
,
Jae Seok
Lim
, et al.
December 05, 2018
Article
Amyloid- and tau-PET imaging in a familial prion kindred
David T.
Jones
,
Ryan A.
Townley
,
Jonathan
Graff-Radford
, et al.
December 03, 2018
Article
Copy number loss in
SFMBT1
is common among Finnish and Norwegian patients with iNPH
Ville E.
Korhonen
,
Seppo
Helisalmi
,
Aleksi
Jokinen
, et al.
December 03, 2018
Article
Atrial fibrillation genetic risk differentiates cardioembolic stroke from other stroke subtypes
Sara L.
Pulit
,
Lu-Chen
Weng
,
Patrick F.
McArdle
, et al.
December 03, 2018
Article
Mutation in
POLR3K
causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation
Imen
Dorboz
,
Hélene
Dumay-Odelot
,
Karima
Boussaid
, et al.
December 03, 2018
Correction
Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations
December 03, 2018
Article
Ataxia-telangiectasia-like disorder in a family deficient for MRE11A, caused by a
MRE11
variant
Maryam
Sedghi
,
Mehri
Salari
,
Ali-Reza
Moslemi
, et al.
December 03, 2018
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