CORE
🇺🇦Â
 make metadata, not war
Services
Services overview
Explore all CORE services
Access to raw data
API
Dataset
FastSync
Content discovery
Recommender
Discovery
OAI identifiers
OAI Resolver
Managing content
Dashboard
Bespoke contracts
Consultancy services
Support us
Support us
Membership
Sponsorship
Community governance
Advisory Board
Board of supporters
Research network
About
About us
Our mission
Team
Blog
FAQs
Contact us
Filters
5 research outputs found
First report of molecular diagnosis of Tunisian hemophiliacs A: Identification of 8 novel causative mutations
Author
A Awidi
Amel Ben Ammar Elggaaied
+40Â more
Asma Jlizi
Balkis Meddeb
Christine Vinciguerra
D Habart
De Brasi
Dorothé Pellechia
E Hejer
Edvard Wigren
Emna Gouider
H Abou-Elew
H Andrikovics
H Khodjet-El-Khil
H Wakabayashi
H Wakabayashi
Hejer Elmahmoudi
Houssein Khodjet-el-khil
J Boekhorst
J Graw
JA Cutler
JM Mantilla-Capacho
K Abu-Amero
Kaouther Zahra
KR Viel
L Salazar-Sánchez
M Liu
MA Zimmermann
N Bogdanova
RD Bagnall
RD Bagnall
S Nakaya
S Nakaya
SC Gouw
SC Gouw
SC Gouw
SE Antonarakis
TM Owaidah
V Akkarepatumwong
VO Thomas
WC Nichols
WL DeLano
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Get PDF
Crossref
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations
Author
Achint K. Singh
Bellus GA
+9Â more
Bober MB
Hecht JT
Kiran M. Sargar
Mantilla-Capacho JM
Robin NH
Simon C. Kao
Tokumaru AM
Walker BA
Wynne-Davies R
Publication venue
'Radiological Society of North America (RSNA)'
Publication date
Field of study
No full text
Crossref
Genotyping of Intron Inversions and Point Mutations in Exon 14 of the FVIII Gene in Iranian Azeri Turkish Families with Hemophilia A
Author
A Cumming
Abdollah Ebrahimi
+31Â more
D Brasi
D Habart
D Lakich
E Tizzano
F Riccardi
H Abou-Elew
H Andrikovics
J Oldenburg
JM Mantilla-Capacho
JP Rossiter
L Rossetti
L Salazar-Sánchez
LC Rossetti
LC Rossetti
LC Rossetti
LW Hoyer
M Acquila
M Zimmermann
Mahmoud Shekari Khaniani
N Roozafzay
Q Liu
R Ahmed
R Bagnall
R Ljung
R Santacroce
RD Bagnall
S Hwang
S Miller
SE Antonarakis
Setareh Daraei
Sima Mansoori Derakhshan
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Nonlinear expression and visualization of nonmetric relationships in genetic diseases and microbiome data
Author
A Hamosh
AR Jamieson
+42Â more
C Li
D Horn
DM Moloney
DR Bertola
DR Mowat
E Lajeunie
GE Hinton
HG Brunner
I Sutskever
J Freudenberg
J Lim
J Loscalzo
J Qin
J Zhou
JC Wooley
Jiaqi Liu
JM Mantilla-Capacho
K Lage
Kaiping Wei
L Maaten Van der
M Oti
M Oti
MA Driel van
N Qian
RJ Hay
S Strenge
Tingting He
V Limviphuvadh
W Xu
W Xu
X He
X Jiang
X Shen
Xianchao Zhu
Xianjun Shen
Xiaohua Hu
Xingpeng Jiang
Y Adachi
Y Bengio
Y Mao
Y Nesterov
Yuanyuan Ma
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Syndromic craniosynostosis: neuropsycholinguistic abilities and imaging analysis of the central nervous system
Author
Adriano Yacubian Fernandes
Agochukwu NB
+36Â more
Arduino-Meirelles AP
Camila de Castro Corrêa
Da Costa AC
Dagma Venturini Marques Abramides
De Renzi E
Ducati LG.
Dunn LM
Elfenbein JL
Flapper WJ
Garcia PF.
Glaser RL
Godoy JF
Graciano MIG
Hage SRV
Jerger J.
Jong T
Khanna PC
Lamônica DA
Luciana Paula Maximino
Luis Gustavo Ducati
Mantilla-Capacho JM
MartÃnez Fernández A
Marucci DD
Misquiatti ARN.
Panigrahi I.
PatrÃcia Fernandes Garcia
Senarath-Yapa K
Shipster C
Stein LM.
Terman LM
Wechsler D.
Wechsler D.
Weiss AL
Yacubian-Fernandes A
Yacubian-Fernandes A
Yacubian-Fernandes A
Publication venue
'FapUNIFESP (SciELO)'
Publication date
Field of study
No full text
Crossref