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内部出版物
SpringerLink电子期刊(2)
Elsevier电子期刊(3)
在“
Elsevier电子期刊
”中,
命中:
3
条,耗时:小于0.01 秒
在所有数据库中总计命中:
5
条
1.
A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms
作者:
Carter D. Wray
;
Marisa W. Friederich
;
Desiree du Sart
;
Sarah Pantaleo
;
Jo茅l Smet
;
Cathlin Kucera
;
Laura Fenton
;
Gunter
Scharer
;
Rudy Van Coster
;
Johan L.K. Van Hove
关键词:
EEG
;
electroencephalogram
;
PAGE
;
polyacrylamide gel electrophoresis
;
mtDNA
;
mitochondrial DNA
;
LHON
;
Leber hereditary optic neuropathy
;
MELAS
;
mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes
;
HRM
;
high resolution melt
;
PCR
;
polymerase chain reaction
刊名:Mitochondrion
出版年:November, 2013
2.
An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1
作者:
Hung-Chun Yu
;
Jennifer?L. Sloan
;
Gunter
Scharer
;
Alison Brebner
;
Anita?M. Quintana
;
Nathan?P. Achilly
;
Irini Manoli
;
Curtis?R. Coughlin II
;
Elizabeth?A. Geiger
;
Una Schneck
;
David Watkins
;
Terttu Suormala
;
Johan?L.K. Van?Hove
;
Brian Fowler
;
Matthias?R. Baumgartner
;
David?S. Rosenblatt
;
Charles?P. Venditti
;
Tamim?H. Shaikh
刊名:The American Journal of Human Genetics
出版年:2013
3.
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification
作者:
Efraim H. Rosenberg
;
Eduard A. Struys
;
Keith Hyl
;
Barbara Plecko
;
Paula J. Waters
;
Saadet Mercimek-Mahmutoglu
;
Sylvia Stockler-Ipsiroglu
;
Renata C. Gallagher
;
Gunter
Scharer
;
Johan L.K. Van Hove
;
Cor
关键词:
Inborn error of metabolism
;
Multiple displacement amplification
;
Whole genome amplification
;
Allelic dropout
;
Preferential amplification
刊名:Molecular Genetics and Metabolism
出版年:2009
1
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作者(3)
按出版年细分(3)
2027年及以后(1)
2013年(1)
2009年(1)
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