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3 research outputs found
Targeted next generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome
Author
A De Paepe
A De Paepe
+45 more
A McKenna
Abdulshakur Abdullah
AM Vandersteen
Anthony Vandersteen
BL Loeys
BL Loeys
Christina Kanonidou
CL Phillips
D van der Linde
David Ferguson
David Ross
EM Bonachea
F Malfait
F Malfait
F. Michael Pope
GR Monroe
Hanadi Kazkaz
Holly A. Black
J Halbritter
J Vandrovcova
Jana Vandrovcova
Jennifer Biggs
JM Bourhis
KT Ong
L Nuytinck
M Pepin
MG Pepin
Michael Mueller
MJ Pickup
ML Metzker
Neeti Ghali
Nicholas J. Cheshire
NS Stembridge
P Beighton
Penny Norsworthy
Piyush Gampawar
R Derynck
R Morissette
Rodney Grahame
Ruwan A. Weerakkody
S Kirmani
S Proske
S Richards
Timothy J. Aitman
Yousef Ibrahim
Publication venue
'Springer Science and Business Media LLC'
Publication date
24/03/2016
Field of study
Get PDF
Crossref
Edinburgh Research Explorer
Clinical, Structural, Biochemical and X-Ray Crystallographic Correlates of Pathogenicity for Variants in the C-Propeptide Region of the <em>COL3A1</em> Gene
Author
Elmslie F
Ferguson DJP
+10 more
Ghali N
Henderson A
Holden S
Hulmes DJS
Nesbitt M
Pollitt RC
Pope FM
Sawle P
Stembridge NS
Vandersteen AM
Publication venue
Wiley-Blackwell Publishing Ltd.
Publication date
Field of study
No full text
Newcastle University E-Prints
The collαgen III fibril has a “flexi-rod” structure of flexible sequences interspersed with rigid bioactive domains including two with hemostatic roles
Author
A Liden
A Rich
+129 more
A Sekiya
AD Barrow
AD Konitsiotis
AM Romanic
Anton V. Persikov
AV Persikov
AV Persikov
AV Persikov
B Asling
B Brodsky
C Giudici
C Lethias
C Meyer
C Unal
C Wagner
C Widmer
CL Mainardi
D Kronenberg
DL Bodian
DM Lawton
DR Keene
E Calvo
E Calvo
E Hohenester
E Schonherr
EJ Miller
EJ Miller
EJ Miller
ES Edgington
F Carafoli
F Elefteriou
FM Pope
GA Di Lullo
GE Jarvis
GP Luo
H Birkedal-Hansen
H Depraetere
H Nagase
H Puchtler
Hayat Dagher
HF Bigg
HM Wang
J Chen
J Harsfalvi
J Wu
J Zhu
J. Des Parkin
JA Chapman
James D. San Antonio
JC Leo
JD Parkin
JD San Antonio
JD San Antonio
JE Scott
Jie Zheng
JJ Wu
JK Kim
JM Bourhis
JM Seyer
JP Orgel
Judy Savige
K Kar
K Takahara
K Zafarullah
KA Piez
KA Piez
KB Kluivers
KM Meek
KM Reiser
KN Cowan
L Narouz-Ott
L Pellegrini
L Shi
LR Fiedler
M Barczyk
M EJ
M Frank
M Guan
M Pepin
M Terajima
M Wolman
MA Weis
MPaJ Wand
Murwantoko
N Raynal
NC Avery
NJ Galvin
NS Stembridge
P Beighton
P Maurice
PA Ruiz
PA Smethurst
PG Scott
PR Siljander
R Fleischmajer
R Halila
R Luo
R Probstmeier
R Somasundaram
Raymond Dalgleish
RD Young
RH Goldfarb
RJ Lebbink
RJ Lebbink
RP Boot-Handford
RV Iozzo
S Kanzawa
S Ricard-Blum
Shane T. Jensen
SM Sweeney
SM Sweeney
SP Boudko
SR Goldberg
SW Hamaia
SW Volk
T Fahrig
T Koide
T Lisman
TH Brondijk
TM Chiang
U Eckhard
W Henkel
WM Wang
Xavier Jeunemaitre
Y Hayashi
Y Hu
Y Tada
Y Zhu
Z Dong
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
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