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内部出版物
Springer电子图书(1)
SpringerLink电子期刊(2)
ProQuest学位论文(1)
Elsevier电子期刊(9)
在“
SpringerLink电子期刊
”中,
命中:
2
条,耗时:小于0.01 秒
在所有数据库中总计命中:
13
条
1.
GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia
作者:
Zheng Fan (1)
Robert Greenwood (1)
Ana C. G. Felix (1)
Yael Shiloh-Malawsky (1)
Michael
Tennison
(1)
Myra Roche (1)
Kristy Crooks (1)
Karen Weck (1)
Kirk Wilhelmsen (1)
Jonathan Berg (1)
James Evans (1)
刊名:Journal of Neurology
出版年:2014
2.
Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)
作者:
Karen Fritchie
;
Eija Siintola
;
Diane Armao
;
Anna-Elina Lehesjoki
;
Thomas Marino
;
Cynthia Powell
;
Michael
Tennison
;
Jessica M. Booker
;
Sabine Koch and Sanna Partanen
;
et al.
关键词:
Cathepsin D
;
Lysosomal storage disease
;
Molecular biology
;
Neuronal ceroid lipofuscinosis
刊名:Acta Neuropathologica
出版年:2009
1
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2014年(1)
2009年(1)
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