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内部出版物
在“
Elsevier电子期刊
”中,
命中:
121
条,耗时:小于0.01 秒
1.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability
作者:
Yair Anikster
1
;
2
;
3
;
24
;
yair.anikster@sheba.health.gov.il
;
Tobias B. Haack
4
;
5
;
24
;
Thierry
Vilb
oux
6
;
7
;
24
;
Ben Pode-Shakked
1
;
2
;
8
;
24
;
Beat Thö
;
ny
9
;
24
;
Nan Shen
10
;
Virginia Guarani
11
;
Thomas Meissner
12
;
Ertan Mayatepek
12
;
Friedrich K. Trefz
10
;
Dina Marek-Yagel
1
;
2
;
3
;
Aurora Martinez
13
;
Edward L. Huttlin
11
;
Joao A. Paulo
11
;
Riccardo Berutti
4
;
5
;
Jean-Franç
;
ois Benoist
14
;
Apolline Imbard
14
;
Imen Dorboz
15
;
Gali Heimer
2
;
8
;
16
;
Yuval Landau
1
;
2
;
Limor Ziv-Strasser
17
;
May Christine V. Malicdan
6
;
7
;
18
;
Corinne Gemperle-Britschgi
9
;
Kirsten Cremer
19
;
Hartmut Engels
19
;
David Meili
9
;
Irene Keller
20
;
21
;
Ré
;
my Bruggmann
20
;
Tim M. Strom
4
;
5
;
Thomas Meitinger
4
;
5
;
James C. Mullikin
22
;
Gerard Schwartz
1
;
2
;
Bruria Ben-Zeev
2
;
16
;
William A. Gahl
18
;
J. Wade Harper
11
;
Nenad Blau
10
;
Georg F. Hoffmann
10
;
Holger Prokisch
4
;
5
;
24
;
Thomas Opladen
10
;
24
;
Manuel Schiff
15
;
23
;
24
;
manuel.schiff@aphp.fr
关键词:
DNAJC12
;
hyperphenylalaninemia
;
dystonia
;
neurotransmitter deficiency
;
phenylketonuria
;
tetrahydrobiopterin
;
BH4
;
newborn screening
刊名:The American Journal of Human Genetics
出版年:2017
2.
Computing the geobiosphere emergy baseline: A novel approach
作者:
C. De
Vilb
iss
;
M.T. Brown
;
mtb@ufl.edu" class="auth_mail" title="E-mail the corresponding author
;
E. Siegel
;
S. Arden
关键词:
Emergy baseline
;
Solar equivalence ratio
;
Gravitational emergy
;
Gravitational transformity
刊名:Ecological Modelling
出版年:2016
3.
PIAS1 binds p300 and behaves as a coactivator or corepressor of the transcription factor c-Myb dependent on SUMO-status
作者:
Marit Ledsaak
marit.ledsaak@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Mads Bengtsen
mads.bengtsen@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Ann-Kristin Molvæ
;
rsmyr
a.k.molvarsmyr@odont.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Bettina Maria Fuglerud
b.m.fuglerud@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Vilb
org Matre
vilb
org.matre@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Ragnhild Eskeland
ragnhild.eskeland@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
;
Odd Stokke Gabrielsen
;
o.s.gabrielsen@ibv.uio.no" class="auth_mail" title="E-mail the corresponding author
关键词:
Transcription factor
;
c-Myb
;
PIAS1
;
p300
;
SUMOylation
;
Coactivator
刊名:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
出版年:2016
4.
Calculating solar equivalence ratios of the four major heat-producing radiogenic isotopes in the Earth's crust and mantle
作者:
Eric Siegel
;
Mark T. Brown
;
mtb@ufl.edu" class="auth_mail" title="E-mail the corresponding author
;
Chris De
Vilb
iss
;
Sam Arden
关键词:
Solar equivalence ratio
;
Radionuclides
;
Gravitational emergy
;
Gravitational transformity
刊名:Ecological Modelling
出版年:2016
5.
MIR retroposon exonization promotes evolutionary variability and generates species-specific expression of IGF-1 splice variants
作者:
Giosuè
;
Annibalini
a
;
1
;
giosue.annibalini@uniurb.it" class="auth_mail" title="E-mail the corresponding author
;
Pamela Bielli
b
;
e
;
1
;
Mauro De Santi
a
;
Deborah Agostini
a
;
Michele Guescini
a
;
Davide Sisti
a
;
Serena Contarelli
a
;
Giorgio Brandi
a
;
Anna Villarini
c
;
Vilb
erto Stocchi
a
;
Claudio Sette
b
;
e
;
Elena Barbieri
a
;
d
关键词:
IGF-1 isoforms
;
Alternative splicing
;
Retroposon exonization
;
Synonymous sites
;
Intrinsically disordered regions
刊名:Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
出版年:2016
6.
Mutational analysis of mitochondrial DNA in Brugada syndrome
作者:
Laura Stocchi
a
;
1
;
Emanuela Polidori
b
;
1
;
Lucia Potenza
b
;
1
;
lucia.potenza@uniurb.it" class="auth_mail" title="E-mail the corresponding author
;
Marco Bruno Luigi Rocchi
b
;
Cinzia Calcabrini
b
;
Paolo Busacca
c
;
Maria Capalbo
d
;
Domenico Potenza
e
;
Francesca Amati
a
;
Ruggiero Mango
f
;
Francesco Romeo
f
;
g
;
Giuseppe Novelli
a
;
h
;
i
;
Vilb
erto Stocchi
b
关键词:
Brugada syndrome
;
mtDNA
;
mtSNPs
;
Sequence analysis
;
Risk stratification
刊名:Cardiovascular Pathology
出版年:2016
7.
GATA Factor-Dependent Positive-Feedback Circuit in Acute Myeloid Leukemia Cells
作者:
Koichi R. Katsumura
1
;
3
;
Irene M. Ong
2
;
3
;
Andrew W. De
Vilb
iss
1
;
3
;
Rajendran Sanalkumar
1
;
3
;
Emery H. Bresnick
1
;
3
;
4
;
ehbresni@wisc.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Cell Reports
出版年:2016
8.
104: Prenatal whole exome sequencing identifies genetic causes of congenital heart disease in fetuses with normal karyotype and normal microarray
作者:
Huda B. Al-kouatly
1
;
2
;
Thierry
Vilb
oux
1
;
3
;
Melissa H. Fries
2
;
Alice Young
1
;
Jim C. Mullikin
1
;
May Christine V. Malicdan
1
;
Joshi Stephen
1
;
Marjan Huizing
1
;
William A. Gahl
1
;
Ronald J. Wapner
4
刊名:American Journal of Obstetrics and Gynecology
出版年:2016
9.
Tu1726 Characteristics of Liver Disease and Predictors of Portal Hypertension in Patients With Joubert Syndrome
作者:
Anna Strongin
;
Theo Heller
;
Thierry
Vilb
oux
;
May Malicdan
;
Joy Bryant
;
Roxanne Fischer
;
Deniz Yildirimli
;
Meghana Vemulapalli
;
James Mullikin
;
William Gahl
;
Meral Gunay-Aygun
刊名:Gastroenterology
出版年:2016
10.
8 - Prostate HistoScanning™ system has no benefits compared to the standard 12-core TRUS-guided biopsy and is often unreliable
作者:
E. Valk
;
E. Jõ
;
este
;
D. Saranova
;
L. Kukk
;
K.-L.
Vilb
iks
刊名:European Urology Supplements
出版年:2016
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