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内部出版物
Wiley电子期刊(5)
SpringerLink电子期刊(19)
Elsevier电子期刊(34)
Springer电子图书(2)
NATURE电子期刊(10)
ACS电子期刊(1)
在“
Wiley电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
在所有数据库中总计命中:
71
条
1.
Longitudinal mutational analysis of a cerebellar pilocytic astrocytoma recurring as a ganglioglioma
作者:
Pierre O. Fiset
;
Adam M. Fontebasso
;
Nicolas De Jay
;
Tenzin Gayden
;
Hamid Nikbakht
;
Jacek
Majewski
;
Nada Jabado and Steffen Albrecht
刊名:Pediatric Blood & Cancer
出版年:2017
2.
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (
YARS
) gene
作者:
Małgorzata J. M. Nowaczyk
;
Lijia Huang
;
Mark Tarnopolsky
;
Jeremy Schwartzentruber
;
Jacek
Majewski
;
Dennis E. Bulman
;
FORGE Canada Consortium
;
Care4Rare Canada Consortium
;
Taila Hartley and Kym M. Boycott
刊名:American Journal of Medical Genetics Part A
出版年:2017
3.
SLC25A46 is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome
作者:
Alexandre Janer
;
Julien Prudent
;
Vincent Paupe
;
Somayyeh Fahiminiya
;
Jacek
Majewski
;
Nicolas Sgarioto
;
Christine Des Rosiers
;
Anik Forest
;
Zhen-Yuan Lin
;
Anne-Claude Gingras
;
Grant Mitchell
;
Heidi M McBride and Eric A Shoubridge
刊名:EMBO Molecular Medicine
出版年:2016
4.
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
作者:
Christine M. Armour
;
Amanda Smith
;
Taila Hartley
;
Jodi Warman Chardon
;
Sarah Sawyer
;
Jeremy Schwartzentruber
;
Raoul Hennekam
;
Jacek
Majewski
;
Dennis E. Bulman
;
FORGE Canada Consortium
;
Mohnish Suri and Kym M. Boycott
刊名:American Journal of Medical Genetics Part A
出版年:2016
5.
Inborn Error of Cobalamin Metabolism Associated with the Intracellular Accumulation of Transcobalamin-Bound Cobalamin and Mutations in ZNF143, Which Codes for a Transcriptional Activator
作者:
Mihaela Pupavac
;
David Watkins
;
Francis Petrella
;
Somayyeh Fahiminiya
;
Alexandre Janer
;
Warren Cheung
;
Anne-Claude Gingras
;
Tomi Pastinen
;
Joseph Muenzer
;
Jacek
Majewski
;
Eric A. Shoubridge and David S. Rosenblatt
刊名:Human Mutation
出版年:2016
1
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2016年(3)
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