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CNKI学位论文(6)
在“
Elsevier电子期刊
”中,
命中:
97
条,耗时:小于0.01 秒
在所有数据库中总计命中:
6
条
1.
Calpain 12 Function Revealed through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis
作者:
Ron Bochner
1
;
12
;
Liat Samuelov
1
;
2
;
12
;
Ofer Sarig
1
;
12
;
Qiaoli Li
3
;
Christopher A. Adase
2
;
Ofer Isakov
4
;
5
;
Natalia Malchin
1
;
Dan Vodo
1
;
6
;
Ronna Shayevitch
6
;
Alon Peled
1
;
6
;
Benjamin D. Yu
2
;
Gilad Fainberg
1
;
Emily Warshauer
1
;
Noam Adir
7
;
Noam Erez
8
;
Andrea Gat
9
;
Yehonatan Gottlieb
10
;
Tova Rogers
1
;
Mor Pavlovsky
1
;
Ilan Goldberg
1
;
Noam Shomron
4
;
5
;
Aileen Sandilands
11
;
Linda E. Campbell
11
;
Stephanie MacCallum
11
;
W. H. Irwin McLean
11
;
Gil Ast
6
;
Richard L. Gallo
2
;
Jouni
Uitto
3
;
Eli Sprecher
1
;
6
;
elisp@tlvmc.gov.il
关键词:
ARCI
;
autosomal recessive congenital ichthyose
;
PCR-RFLP
;
PCR-restriction fragment length polymorphism
;
siRNA
;
small interfering RNA
刊名:Journal of Investigative Dermatology
出版年:2017
2.
Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability
作者:
Hassan Vahidnezhad
1
;
2
;
10
;
Razieh Karamzadeh
3
;
4
;
10
;
Amir Hossein Saeidian
1
;
10
;
Leila Youssefian
1
;
9
;
10
;
Soheila Sotoudeh
5
;
Sirous Zeinali
2
;
6
;
Mohammad Vasei
7
;
Fatemeh Golnabi
6
;
Taghi Baghdadi
8
;
Jouni
Uitto
1
;
Jouni
.
Uitto
@Jefferson.edu
刊名:Journal of Investigative Dermatology
出版年:2017
3.
Introduction to mini-review cluster on fibrotic diseases: A Festschrift to Joel Rosenbloom, M.D., Ph.D
作者:
Jouni
Uitto
Jouni.Uitto@jefferson.edu" class="auth_mail" title="E-mail the corresponding author
刊名:Matrix Biology
出版年:2016
4.
Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification
作者:
Jo-David Fine
;
MD
;
MPH
;
FRCP
a
;
b
;
Jo-David.Fine@vanderbilt.edu" class="auth_mail
;
Leena Bruckner-Tuderman
;
MD
;
PhD
c
;
Robin A.J. Eady
;
DSc
;
FRCP
;
FMedSci
d
;
Eugene A. Bauer
;
MD
e
;
Johann W. Bauer
;
MD
f
;
Cristina Has
;
MD
c
;
Adrian Heagerty
;
MD
;
FRCP
g
;
Helmut Hintner
;
MD
f
;
Alain Hovnanian
;
MD
;
PhD
h
;
Marcel F. Jonkman
;
MD
;
PhD
i
;
Irene Leigh
;
CBE
;
DSc
;
FRCP
;
FRSE
;
FMedSci
j
;
M. Peter Marinkovich
;
MD
e
;
k
;
Anna E. Martinez
;
FRCPCH
l
;
John A. McGrath
;
MD
;
FRCP
;
FMedSci
d
;
Jemima E. Mellerio
;
MD
;
FRCP
d
;
l
;
Celia Moss
;
DM
;
FRCP
;
MRCPCH
m
;
Dedee F. Murrell
;
MD
;
FACD
n
;
Hiroshi Shimizu
;
MD
;
PhD
o
;
Jouni
Uitto
;
MD
;
PhD
p
;
David Woodley
;
MD
q
;
Giovanna Zambruno
;
MD
r
关键词:
classification
;
diagnosis
;
electron microscopy
;
epidermolysis bullosa
;
gene
;
genetics
;
monoclonal antibodies
刊名:Journal of the American Academy of Dermatology
出版年:June 2014
5.
Ectopic mineralization disorders of the extracellular matrix of connective tissue: Molecular genetics and pathomechanisms of aberrant calcification
作者:
Qiaoli Li
;
Qiujie Jiang
;
Jouni
Uitto
;
Jouni
.
Uitto
@Jefferson.edu" class="auth_mail
关键词:
PXE
;
pseudoxanthoma elasticum
;
GACI
;
generalized arterial calcification of infancy
;
MGP
;
matrix Gla protein
刊名:Matrix Biology
出版年:January, 2014
6.
Heritable disorders of connective tissue: Introduction to mini-review cluster
作者:
Jouni
Uitto
jouni
.
uitto
@jefferson.edu" class="auth_mail
关键词:
Molecular genetics
;
Heritable connective tissue diseases
;
Personalized medicine
刊名:Matrix Biology
出版年:January, 2014
7.
Vitamin K-dependent carboxylation of matrix Gla-protein: a crucial switch to control ectopic mineralization
作者:
Leon J. Schurgers
1
;
l.schurgers@maastrichtuniversity.nl
;
Jouni
Uitto
2
;
Chris P. Reutelingsperger
1
关键词:
vitamin K
;
matrix Gla-protein
;
vitamin K antagonists
;
biomarker
;
vascular calcification
;
ectopic mineralization
;
cardiovascular disease
;
apoptosis
;
arteriovenous malformations
刊名:Trends in Molecular Medicine
出版年:2013
8.
Cole Disease Results from Mutations in ENPP1
作者:
Ori Eytan
;
Fanny Morice-Picard
;
Ofer Sarig
;
Khaled Ezzedine
;
Ofer Isakov
;
Qiaoli Li
;
Akemi Ishida-Yamamoto
;
Noam Shomron
;
Tomer Goldsmith
;
Dana Fuchs-Telem
;
Noam Adir
;
Jouni
Uitto
;
Seth?J. Orlow
;
Alain Taieb
;
Eli Sprecher
刊名:The American Journal of Human Genetics
出版年:2013
9.
Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14
作者:
Dana Fuchs-Telem
;
Ofer Sarig
;
Maurice?A.M. van?Steensel
;
Ofer Isakov
;
Shirli Israeli
;
Janna Nousbeck
;
Katharina Richard
;
Veronique Winnepenninckx
;
Marigje Vernooij
;
Noam Shomron
;
Jouni
Uitto
;
Philip Fleckman
;
Gabriele Richard
;
Eli Sprecher
刊名:The American Journal of Human Genetics
出版年:2012
10.
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome Is Caused by a POC1A Mutation
作者:
Ofer Sarig
;
Sagi Nahum
;
Debora Rapaport
;
Akemi Ishida-Yamamoto
;
Dana Fuchs-Telem
;
Li Qiaoli
;
Ksenya Cohen-Katsenelson
;
Ronen Spiegel
;
Janna Nousbeck
;
Shirli Israeli
;
Zvi-Uri Borochowitz
;
Gilly Padalon-Brauch
;
Jouni
Uitto
;
Mia Horowitz
;
Stavit Shalev
;
Eli Sprecher
刊名:The American Journal of Human Genetics
出版年:2012
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