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9 research outputs found

Severe neonatal jaundice due to ade novoglucose-6-phosphate dehydrogenase deficient mutation

Author: Adán R.
Aragües P.
Arrieta A.
Arrizabalaga B.
Bento C.
de la Hoz A. B
Del Orbe Barreto R.
Garcia-Ruiz J. C.
Macedo-Ribeiro S.
Manco L.
Ribeiro M. L.
Publication venue
Publication date: 23/12/2015
Field of study

Hereditary xerocytosis, a misleading anemia

Author: Arrizabalaga B.
Bento C.
De la Hoz Rastrollo A. B.
Del Orbe Barreto R.
García-Orad A.
García-Ruiz J. C.
Gonzalez Vallejo I.
Villegas A.
Publication venue: 'Springer Science and Business Media LLC'
Publication date: 01/01/2016
Field of study

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Author: Arrizabalaga B
Barbara D
Bianchi P
Clark B
Colombatti R
Da Costa L
Del Mar Manu M
Del Orbe Barreto R
Fermo E
Hozdelarastrollo A
Iolascon A
Korchuenjit J
Maia T
Marzollo A
Patricia A
Proven M
Roberts I
Roy N
Russo R
Sanchez M
Smith F
Swinkels D
Tamary H
Viprakasit V
Publication venue: 'American Society of Hematology'
Publication date: 01/01/2018
Field of study

Oxford University Research Archive

Towards an External Quality Assessment for Next Generation Sequencing in the Diagnosis of Rare Inherited Anaemias

Author: Arrizabalaga B
Barbara D
Bianchi P
Clark B
Colombatti R
Da Costa L
Del Mar Manu M
Del Orbe Barreto RA
Fermo E
Hozdelarastrollo A
Iolascon A
Korchuenjit J
Maia TM
Marzollo A
Patricia A-M
Proven M
Roberts I
Roy N
Russo R
Sanchez M
Smith F
Swinkels DW
Tamary H
Viprakasit V
Publication venue: 'American Society of Hematology'
Publication date: 01/01/2018
Field of study

Oxford University Research Archive

Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias

Author: Arrizabalaga B
Bianchi P
Clark B
Colombatti R
Da Costa L
De La Hoz AB
Del Mar Manu M
Del Orbe Barreto RA
Delasalle B
Fermo E
Iolascon A
Korchuenjit J
Magalhaes Maia T
Marzollo A
Patricia A-M
Proven M
Roberts I
Roy N
Russo R
Sanchez M
Smith F
Swinkels D
Tamary H
Viprakasit V
Publication venue: 'Wiley'
Publication date: 01/01/2019
Field of study

Oxford University Research Archive

Addressing the need for an external quality assessment for next generation sequencing (NGS) in the diagnosis of rare inherited anaemias

Author: Arrizabalaga B
Bianchi P
Clark B
Colombatti R
Da Costa L
De La Hoz AB
Del Mar Manu M
Del Orbe Barreto RA
Delasalle B
Fermo E
Iolascon A
Korchuenjit J
Maia T
Marzollo A
Patricia A-M
Proven M
Roberts I
Roy N
Russo R
Sanchez M
Smith F
Swinkels D
Tamary H
Viprakasit V
Publication venue: 'Royal College of Obstetricians & Gynaecologists (RCOG)'
Publication date: 01/01/2019
Field of study

Oxford University Research Archive

Study of pathophysiology and molecular characterization of congenital anemia in India using targeted next-generation sequencing approach

Author: Barreto R Del Orbe
C Shooter
D Chiu
E Beutler
Etsuro Ito
F He
G Jacobasch
GM Clarke
Hideki Muramatsu
Hideo Harigae
J Sambrook
JV Dacie
Manisha R. Madkaikar
MJ King
MJ King
N Shefer Averbuch
NB Roy
P Kedar
P Koralkova
P Warang
P Warang
PC Lin
PG Gallagher
Prabhakar S. Kedar
Prashant P. Warang
PS Kedar
PS Kedar
PS Kedar
PS Kedar
R Dongerdiye
R Russo
Rashmi Dongerdiye
Seiji Kojima
Tohru Fujiwara
W Barcellini
W Shen
Y Kim
Yusuke Okuno
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Iron metabolism in sport and altitude training

Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias

Author: A Iolascon
A Iolascon
A Iolascon
A Vlachos
A Vlachos
AM Agarwal
AR Kim
AZ Amir
Barreto R Del Orbe
BE Glader
C Kopanos
C Kung
CD Trainor
F Sanger
G Gerrard
GW Stewart
H Shalev
I Andolfo
I Andolfo
I Andolfo
J Albuisson
J Narla
JC Ulirsch
JE Farrar
JH Fargo
KI Ataga
L Arnaud
L Da Costa
LJ Bruce
LS Ludwig
M Garcia-Gomez
M Risinger
MAE Haija
MD Fleming
N Mohandas
N Shefer Averbuch
NBA Roy
NBA Roy
O Gilad
O Niss
O Steinberg-Shemer
PS Kedar
R Rapetti-Mauss
R Russo
RD Arora
RF Grace
RF Grace
RF Grace
RK Khajuria
S Aydin Koker
S Ducamp
S Dutt
S Richards
S Shin
SH Katsanis
SN Wickramasinghe
T Lavabre-Bertrand
T Lavabre-Bertrand
TA More
TA More
V Picard
VG Sankaran
W Jang
X Wang
X Wang
Y He
Y Li
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

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