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Elsevier电子期刊(17)
在“
Elsevier电子期刊
”中,
命中:
17
条,耗时:小于0.01 秒
在所有数据库中总计命中:
17
条
1.
Red blood cell PK deficiency: An update of PK-LR gene mutation database
作者:
Giulia Canu
;
giuliacanu@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Maria De Bonis
;
Angelo Minucci
;
angelo.minucci@virgilio.it" class="auth_mail" title="E-mail the corresponding author
;
angelo.minucci@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
;
Ettore Capoluongo
关键词:
PK-LR
;
pyruvate kinase liver and red blood cells
;
PK-M
;
pyruvate kinase muscle
;
CNSHA
;
chronic nonspherocytic hemolytic anemia
;
RBCs
;
red blood cells
;
LOVD
;
Leiden Open Variants Database
;
HGMD
;
Human Gene Mutation Database
刊名:Blood Cells, Molecules and Diseases
出版年:2016
2.
Anoctamin 5 muscular dystrophy associated with a silent p.Leu115Leu mutation resulting in exon skipping
作者:
Pushpa Raj Joshi
;
Dieter Gl盲ser
;
Carolin Dre脽el
;
Wolfram Kress
;
Joachim Weis
;
Marcus Deschauer
关键词:
Anoctamin 5
;
Dysferlin
;
Mutation
;
Silent mutation
;
Exon skipping
刊名:Neuromuscular Disorders
出版年:January, 2014
3.
Detection of variants in SLC6A8 and functional analysis of unclassified missense variants
作者:
Ofir T. Betsalel
a
;
Ana Pop
a
;
Efraim H. Rosenberg
b
;
Matilde Fernandez-Ojeda
a
;
Creatine Transporter Research
;
Group
1
;
Cornelis Jakobs
a
;
Gajja S. Salomons
a
;
g.salomons@vumc.nl
关键词:
SLC6A8
;
Creatine transporter
;
Missense variants
;
LOVD
;
DHPLC
刊名:Molecular Genetics and Metabolism
出版年:2012
4.
Does variability in cognitive performance correlate with frontal brain volume?
作者:
Martin Lö
;
vdé
;
n
a
;
b
;
c
;
Martin.
Lovd
en@ki.se
;
Florian Schmiedek
a
;
d
;
Kristen M. Kennedy
e
;
Karen M. Rodrigue
e
;
Ulman Lindenberger
a
;
Naftali Raz
a
;
f
关键词:
Within-person variability
;
Individual differences
;
Aging
;
Gray matter volume
;
White matter volume
刊名:NeuroImage
出版年:2013
5.
Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the ¡°old?and update of the new mutations
作者:
Angelo Minucci
a
;
angelo.minucci@virgilio.it
;
angelo.minucci@rm.unicatt.it
;
Kamran Moradkhani
b
;
Ming Jing Hwang
c
;
Cecilia Zuppi
a
;
Bruno Giardina
a
;
Ettore Capoluongo
a
;
1
;
ecapoluongo@rm.unicatt.it
关键词:
G6PD mutations
;
LOVD
;
Favism
;
RBC enzyme deficiency
刊名:Blood Cells, Molecules, and Diseases
出版年:2012
6.
Internationalization as a strategy to overcome industry barriers—An assessment of the marine energy industry
作者:
Nicolai Lø
;
vdal
a
;
nicolai.
lovd
al@iot.ntnu.no
;
Frank Neumann
b
;
frank@wave-energy-centre.org
关键词:
International entrepreneurship
;
Innovation policy
;
Emerging industries
刊名:Energy Policy
出版年:2011
7.
Novel BRCA1/2 mutations in Serbian breast and breast–ovarian cancer patients with hereditary predisposition
作者:
Jelena Dobrič
;
ić
;
Mirjana Branković
;
-Magić
;
Slađ
;
ana Filipović
;
Siniš
;
a Radulović
刊名:Cancer Genetics and Cytogenetics
出版年:2010
8.
Directed Evolution and Structural Characterization of a Simvastatin Synthase
作者:
Xue Gao
;
Xinkai Xie
;
Inna Pashkov
;
Michael R. Sawaya
;
Janel Laidman
;
Wenjun Zhang
;
Ralph Cacho
;
Todd O. Yeates
;
Yi Tang
刊名:Chemistry & Biology
出版年:2009
9.
Synthesis and biological evaluation of amino-pyridines as androgen receptor antagonists for stimulating hair growth and reducing sebum production
作者:
Lain-Yen Hu
;
Huangshu John Lei
;
Daniel Du
;
Theodore R. Johnson
;
Victor Fedij
;
Catherine Kostlan
;
Wen Song Yue
;
Mark
Lovd
ahl
;
Jie Jack Li
;
Mathew Carroll
;
Danielle Dettling
;
Jeffrey Asbill
;
Conglin Fan
关键词:
Hair growth
;
Sebum reduction
;
Androgen antagonist
;
Amino-pyridine
刊名:Bioorganic and Medicinal Chemistry Letters
出版年:2007
10.
Biosynthesis of Lovastatin Analogs with a Broadly Specific Acyltransferase
作者:
Xinkai Xie
;
Kenji Watanabe
;
Wladyslaw A. Wojcicki
;
Clay C.C. Wang
;
Yi Tang
刊名:Chemistry & Biology
出版年:2006
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