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Wiley电子期刊(1)
SpringerLink电子期刊(8)
NATURE电子期刊(1)
Elsevier电子期刊(11)
在“
Elsevier电子期刊
”中,
命中:
11
条,耗时:0.0249827 秒
在所有数据库中总计命中:
21
条
1.
Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference
作者:
Mustafa Sahin
;
MD
;
PhD
a
;
mustafa.sahin@childrens.harvard.edu" class="auth_mail" title="E-mail the corresponding author
;
Elizabeth P. Henske
;
MD
b
;
Brendan D. Manning
;
PhD
c
;
Kevin C. Ess
;
MD
;
PhD
d
;
John
J.
Bissler
;
MD
e
;
Eric Klann
;
PhD
f
;
David J. Kwiatkowski
;
MD
;
PhD
b
;
Steven L. Roberds
;
PhD
g
;
Alcino J. Silva
;
PhD
h
;
Coryse St. Hillaire-Clarke
;
PhD
i
;
Lisa R. Young
;
MD
j
;
k
;
Mark Zervas
;
PhD
l
;
Laura A. Mamounas
;
PhD
i
;
mamounas@ninds.nih.gov" class="auth_mail" title="E-mail the corresponding author
;
on behalf of the Tuberous Sclerosis Complex Working Group to Update the Research Plan
John
Blenis
;
PhD
m
;
Thomas N. Darling
;
MD
;
PhD
n
;
Vera P. Krymskaya
;
PhD
;
MBA
o
;
Joel Moss
;
MD
;
PhD
p
;
Elahna Paul
;
MD
;
PhD
q
;
Mario Pende
;
PhD
r
;
s
;
t
;
u
;
v
;
w
;
Minkyung H. Song
;
PhD
x
;
Andrew J. Wagner
;
MD
;
PhD
y
;
Anna W. Byars
;
PhD
z
;
Diane C. Chugani
;
PhD
aa
;
Gabriella D'Arcangelo
;
PhD
bb
;
Petrus J. de Vries
;
MD
cc
;
Michael J. Gambello
;
MD
;
PhD
dd
;
Wendy B. Macklin
;
PhD
ee
;
Charles A. Nelson
;
PhD
ff
;
gg
;
E. Martina Bebin
;
MD
;
MPA
hh
;
Peter B. Crino
;
MD
;
PhD
ii
;
David Franz
;
MD
jj
;
Brandy E. Fureman
;
PhD
kk
;
Henrik Klitgaard
;
PhD
ll
;
Darcy Krueger
;
MD
;
PhD
mm
;
Elizabeth Thiele
;
MD
;
PhD
nn
;
Howard L. Weiner
;
MD
oo
;
Michael Wong
;
MD
;
PhD
pp
;
Joyce Y. Wu
;
MD
qq
;
Karen Cichowski
;
PhD
rr
;
ss
;
tt
;
Channing Der
;
PhD
uu
;
Leon O. Murphy
;
PhD
vv
;
Mark Nellist
;
PhD
ww
;
Hope Northrup
;
MD
xx
;
Norbert Perrimon
;
PhD
yy
;
Kari Luther Rosbeck
zz
;
Reuben J. Shaw
;
PhD
aaa
;
Cara Long
;
PhD
bbb
;
Heather Rieff
;
PhD
ccc
刊名:Pediatric Neurology
出版年:2016
2.
PD04-03 EVEROLIMUS FOR RENAL ANGIOMYOLIPOMA ASSOCIATED WITH TSC OR SLAM: FINAL LONG-TERM RESULTS FROM EXIST-2
作者:
John
Bissler
刊名:The Journal of Urology
出版年:2016
3.
Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
作者:
Prof
John
J
Bissler
;
MD
a
;
john
.
bissler
@cchmc.org
;
J Christopher Kingswood
;
FRCP
b
;
El?bieta Radzikowska
;
MD
c
;
Bernard A Zonnenberg
;
MD
d
;
Michael Frost
;
MD
e
;
Prof Elena Belousova
;
MD
f
;
Matthias Sauter
;
MD
g
;
Prof Norio Nonomura
;
MD
h
;
Susanne Brakemeier
;
MD
i
;
Prof Petrus J de Vries
;
PhD
j
;
Vicky H Whittemore
;
PhD
k
;
David Chen
;
PhD
l
;
Tarek Sahmoud
;
MD
l
;
Gaurav Shah
;
MD
l
;
Jeremie Lincy
;
MS
m
;
David Lebwohl
;
MD
l
;
Prof Klemens Budde
;
MD
i
刊名:The Lancet
出版年:2013
4.
Increased cancer risk of augmentation cystoplasty: Possible role for hyperosmolal microenvironment on DNA damage recognition
作者:
Bradley P. Dixon
;
Albert Chu
;
Jeff Henry
;
Rebecca Kim
;
John
J.
Bissler
关键词:
Hyperosmolar microenvironment
;
DNA repair
;
Carcinogenesis
;
Bladder augmentation
刊名:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
出版年:2009
5.
RecQ and RecG helicases have distinct roles in maintaining the stability of polypurine·polypyrimidine sequences
作者:
Bradley P. Dixon
;
Lu Lu
;
Albert Chu
;
John
J.
Bissler
关键词:
Triplex DNA
;
DNA secondary structure
;
RecG helicase
;
RecQ helicase
;
Structure-mediated mutation
刊名:Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
出版年:2008
6.
Analysis of PKD1 for genomic deletion by multiplex ligation-dependent probe assay: Absence of hot spots
作者:
Piotr Kozlowski
;
John
Bissler
;
York Pei
;
David J. Kwiatkowski
关键词:
PKD1
;
TSC2
;
MLPA
;
Large deletions
;
Polypurine–
;
polypyrimidine tract
;
Intron 21
;
Autosomal dominant polycystic kidney disease
;
Multiplex ligation-dependent probe amplification
刊名:Genomics
出版年:2008
7.
41. Characterization of Fabry disease in 283 pediatric patients in the Fabry Registry
作者:
Robert J. Hopkin
;
William R. Wilcox
;
Christine M. Eng
;
John
Bissler
关键词:
Pyridox(am)ine 5′
;
-phosphate oxidase
;
PNPO
;
Pyridoxal 5′
;
-phosphate
;
PLP
;
Neonatal convulsions
;
Burst-suppression
;
Vanillactate
;
Hyperglycinemia
刊名:Molecular Genetics and Metabolism
出版年:2008
8.
Unpaired Structures in SCA10 (ATTCT)
n
·(AGAAT)
n
Repeats
作者:
Potaman
;
Vladimir N.
;
Bissler
;
John
J.
;
Hashem
;
Vera I.
;
Oussatcheva
;
Elena A.
;
Lu
;
Lu
;
Shlyakhtenko
;
Luda S.
;
et. al.
关键词:
pentanucleotide repeats
;
DNA supercoiling
;
DNA unpairing
;
DNA replication initiation
;
DNA unwinding element
;
SCA10
;
spinocerebellar ataxia type 10
;
CAA
;
chloroacetaldehyde
;
DUE
;
DNA unwinding element
;
BUR
;
base unpairing region
;
AFM
;
atomic force microsco
刊名:Journal of Molecular Biology
出版年:2003
9.
Swelling isn't swell
作者:
Cicardi
;
Marco
;
Bissler
;
John
J.
;
Sullivan
;
Kathleen E.
刊名:Clinical Immunology
出版年:2004
10.
Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2
作者:S ;
ra L. Dabora
;
Penelope Roberts
;
Andres Nieto
;
Ron Perez
;
Sergiusz Jozwiak
;
David Franz
;
John
Bissler
;
Elizabeth A. Thiele
;
Katherine Sims
;
David J. Kwiatkowski
刊名:The American Journal of Human Genetics
出版年:2002
1
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