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内部出版物
CNKI学位论文(4)
知网期刊论文(4)
在“
SpringerLink电子期刊
”中,
命中:
7
条,耗时:0.0429805 秒
在所有数据库中总计命中:
8
条
1.
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect
作者:
Maher Awni Shahrour
;
Claudia M. Nicolae
;
Simon
Edvardson
;
Motee Ashhab…
刊名:neurogenetics
出版年:2017
2.
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
作者:
Simon
Edvardson
;
Haibo Wang
;
Talya Dor
;
Osamah Atawneh
;
Barak Yaacov…
关键词:
Microcephaly
;
Dystonia
;
PLEKHG2
;
Actin
刊名:neurogenetics
出版年:2016
3.
PARP10 deficiency manifests by severe developmental delay and DNA repair defect
作者:
Maher Awni Shahrour
;
Claudia M. Nicolae
;
Simon
Edvardson
;
Motee Ashhab…
关键词:
DNA repair
;
Neurodegeneration
刊名:neurogenetics
出版年:2016
4.
A mutation in the
THG1L
gene in a family with cerebellar ataxia and developmental delay
作者:
Simon
Edvardson
;
Yael Elbaz-Alon
;
Chaim Jalas
;
Ashanti Matlock…
关键词:
Cerebellar atrophy
;
Mitochondrial disorders
;
Mitochondrial fusion
刊名:neurogenetics
出版年:2016
5.
Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene
作者:
Ruth Sheffer
;
Odeya Bennett-Back
;
Barak Yaacov
;
Simon
Edvardson
…
关键词:
INPP4A
;
Hindbrain
;
Myoclonic epilepsy
;
Microcephaly
刊名:neurogenetics
出版年:2015
6.
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency
作者:
Andreas Ohlenbusch (1)
Simon
Edvardson
(2)
Johannes Skorpen (3)
Alf Bjornstad (4)
Ann Saada (5)
Orly Elpeleg (5)
Jutta G?rtner (1)
Knut Brockmann (1)
关键词:
Succinate dehydrogenase
;
Leukoencephalopathy
;
SDHAF1
;
Leigh syndrome
;
Complex II deficiency
;
Assembly factor
刊名:Orphanet Journal of Rare Diseases
出版年:2012
7.
2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase
作者:
Phyllis Dan (1)
Simon
Edvardson
(2)
Jacek Bielawski (3)
Hiroko Hama (3)
Ann Saada (1)
关键词:
Fatty acid hydroxylase
;
hydroxylated fatty acid sphingomyelin
;
autosomal recessive leukodystrophy
刊名:Lipids in Health and Disease
出版年:2011
1
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