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Year
Year
-Year
2011
2012
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2014
2015
2016
2017
2018
2019
Article
Novel pathogenic
VPS13A
gene mutations in Japanese patients with chorea-acanthocytosis
Yoshiaki
Nishida
,
Masayuki
Nakamura
,
Yuka
Urata
, et al.
May 01, 2019
Article
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease
Christopher
Newell
,
Aneal
Khan
,
David
Sinasac
, et al.
May 01, 2019
Editorial
HACE1, RAC1, and what else in the pathogenesis of SPPRS?
Han-Xiang
Deng
April 30, 2019
Article
HACE1 deficiency leads to structural and functional neurodevelopmental defects
Vanja
Nagy
,
Ronja
Hollstein
,
Tsung-Pin
Pai
, et al.
April 30, 2019
Clinical/Scientific Notes
X-linked myotubular myopathy and recurrent spontaneous pneumothorax
A new phenotype?
Per-Ole
Carstens
,
Eva Maria Christina
Schwaibold
,
Katharina
Schregel
, et al.
April 26, 2019
Article
Oligogenic basis of sporadic ALS
The example of
SOD1
p.Ala90Val mutation
Liina
Kuuluvainen
,
Karri
Kaivola
,
Saana
Mönkäre
, et al.
April 23, 2019
Article
Novel pathogenic
XK
mutations in McLeod syndrome and interaction between XK protein and chorein
Yuka
Urata
,
Masayuki
Nakamura
,
Natsuki
Sasaki
, et al.
April 22, 2019
Article
HTT haplogroups in Finnish patients with Huntington disease
Susanna
Ylönen
,
Jussi O.T.
Sipilä
,
Marja
Hietala
, et al.
April 22, 2019
Clinical/Scientific Notes
Double somatic mosaicism in a child with Dravet syndrome
Alison M.
Muir
,
Chontelle
King
,
Amy L.
Schneider
, et al.
April 19, 2019
Article
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes
Chong
Sun
,
Jie
Song
,
Yanjun
Jiang
, et al.
April 19, 2019
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