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
6 research outputs found
Lysosomal Storage Disorders in Egyptian Children
Author
A Pandor
A Tylki-Szymarska
+39Â more
AA Al-Maawali
Amira El-Badawy
Azza Orabi
BJ Poorthuis
C Dionisi-Vici
CE Hollak
Dina A. Mehaney
EM Fateen
FA Al-Jasmi
Fadia Salem
Fayza A. Hassan
GO Tadmouri
H Moammar
H Poupetová
HC Liao
Iman G. Mahmoud
J Charrow
J GarcĂa-Villoria
J Sheth
J Wittmann
JW Touchman
LA Selim
Laila A. Selim
M Filocamo
Magy Abdelwahab
Marian Y. Girgis
Mohamed A. Elmonem
NA Soliman
Neveen A. Soliman
O Staretz-Chacham
PJ Meikle
R Pinto
RM Boustany
S Kadali
Sahar A. Sharaf
Sawsan A. Hassan
TP Mechtler
WL Greer
Zeinab Salah
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Epidemiology of Sanfilippo syndrome: results of a systematic literature review
Author
A Angelis
A Jurecka
+49Â more
AA Al-Maawali
AC Hutchesson
AC Sewell
AH Foss
AM GĂłmez
AO Fedele
B HĂ©ron
BJ Poorthuis
C Dionisi-Vici
C Menéndez-Sainz
Csaba Siffel
D Moher
DA Applegarth
E von Elm
F Baehner
FA Al-Jasmi
G Malm
GJ Ruijter
H Ben Turkia
H Church
H Michelakakis
H Moammar
H Poupetová
H-Y Lin
J Nelson
J Nelson
J Nelson
JC Coelho
JH LeBowitz
JJ van de Kamp
K Krabbi
Kata Csetneki
M Hult
MJ Valstar
MJ Valstar
OA Bodamer
PJ Meikle
PT Ozand
R Pinto
RB Lowry
S Emre
S Kadali
SA Khan
SN Joshi
Tamás Zelei
TY Kagalwala
V Delgadillo
XD Krasnopolskaya
Zoltán Vokó
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
Author
Accogli A
Al-Maawali A
+57Â more
Al-Thihli K
Araoz HV
Basinger AA
Begtrup A
Biskup S
Chitre M
Cogne B
Cui H
Davis M
Doneda C
Ghezzi D
Gomez M
Gowda VK
Grange DK
Gripp KW
Hahn A
Horvath R
Houlden H
Huang K
Isidor B
Jafarnejad SM
Keppen LD
Kim S-H
Lamantea E
Landsverk M
Lin S-J
Lingappa L
Loos MA
Maroofian R
Marten LM
McDunnah P
Mena R
Mohr J
Muhlhausen C
Nizon M
Ostergaard E
Pearson TS
Pedersen SV
Petree C
Prada CE
Procaccio V
Raymond L
Rocca C
Salpietro V
Sawyer LB
Schaefer GB
Schulz HL
Severino M
Sissler M
Sonenberg N
Srinivasan VM
Taylor RW
Telegrafi A
Tonduti D
Varshney GK
Vogt J
Zaki MS
Publication venue
Elsevier B.V.
Publication date
Field of study
No full text
Newcastle University E-Prints
Lack of Diaph3 relaxes the spindle checkpoint causing the loss of neural progenitors
Author
A Al-Maawali
AA Stepanenko
+50Â more
AD DeWard
AF Palazzo
AG Ercan-Sencicek
AS Alberts
B Banerjee
C Liu
CH Eng
CJ Schoen
CJ Schoen
CT Chen
DH Castrillon
DH Castrillon
DJ Baker
E Wang
F Bartolini
F Bartolini
G Chai
I Sagot
I Vitale
J Rodriguez
J Zhang
JA Gorski
JA Vorstman
JG Hall
L Sun
L Zhou
M Florio
M Murga
MA Khan
MA Lampson
MH Hager
MS Spector
O Afonso
R Shinohara
R Taulli
RA Green
S Bogdan
S Matsuura
S Morley
S Watanabe
S Watanabe
S Watanabe
T Miyamoto
T Tominaga
U Gruneberg
VM Draviam
W Dai
X Shao
Y Wen
ZL Chu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
Author
A Abel
A Al-Maawali
+58Â more
A DĂĽrr
A D’Amico
A Magariello
A Orlacchio
A Sulek
A Tessa
AA Polymeris
AE Harding
BN Smith
C Fusco
C Fusco
C Guelly
CJ Klein
CJ Mc Dermott
CM Sanderson
CM Tallaksen
DS McCorquodale III
E Elert-Dobkowska
E Sartori
H Ishiura
H Park
IA Meijer
J Haberlová
J Hazan
JL Loureiro
JL Loureiro
JW Shin
K Svenstrup
KY Chan
L Leonardi
L Leonardis
L Ming
M Matsui
M Muglia
M Namekawa
M Namekawa
MF Leva de
MJ Kwon
N Ivanova
N Zhao
P Balicza
P Hedera
PA Wilkinson
RE Varga
S Rainier
SM Sauter
SQ Chen
ST Bot de
T Terada
T Yonekawa
TN Khan
V Alvarez
V Scarano
X Lu
X Zhao
XH Li
Y Luo
Z Gan-Or
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Recognizable phenotypes in CDG
Author
A Buczkowska
A Erlandson
+69Â more
A Lumaka
A Teneiji Al
AA Al-Maawali
B Bortot
B PĂ©rez
BN Harding
C Garel
Carlos R. Ferreira
D Marques-da-Silva
D Marques-da-Silva
DA Thompson
DFGJ Wolthuis
DM Krasnewich
Dorinda Marques-Da-Silva
E Morava
E Morava
E Tham
E Veneselli
Eva Morava
F Imtiaz
G Truin
GM Enns
H Antoun
J Artigas
J Cossins
J Jaeken
J Senderek
Jaak Jaeken
JM Brum
JM Kamp van de
K Dörre
KL Stark
L Hertz-Pannier
L Pavone
L Regal
LG Riley
LI Rudaks
M Edwards
M Höck
M Schiff
M Serrano
M-L Monin
MI Michelena de
MK Thong
N Léticée
N Rind
N Tayebi
O Laplace
P Bengtson
P Briones
P Lonlay de
P Vabres
PT Clayton
R Barone
R Barone
Rita Francisco
Ruqaia Altassan
S Bubel
S GrĂĽnewald
S Işıkay
S Kjaergaard
S Romano
S Vermeer
T Endo
T HonzĂk
V Noelle
W Vleugels
W Vleugels
X Wu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref