CORE
🇺🇦
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
14 research outputs found
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Author
A Ortiz
A Vellodi
+95 more
A Zimran
Adriana Ceci
Aida Ormazábal
AR Gagliardi
B Winchester
BL Therrell
BR Bacon
British Columbia Medical Association
C Angelini
C Peters
Carme Fons
Christina Lampe
Christine I Dali
Cinzia Maria Bellettato
CM Eng
Cristina Jou
Cristina Sierra
D Laney
Delia Yubero
DM Frazier
E Clark
E Roberts
EJ Cupler
EJ Langereis
Elisenda Cortès-Saladelafont
Esperanza Castejon Ponce
European Association for Study of Liver
F Lamari
Fedele Bonifazi
Federico Ramos
Francesca D’Avanzo
Franco Bartoloni
G Solanki
G Visser
GL Arnold
GL Arnold
HC Andersson
HN Baris
Ivo Barić
J Charrow
J Finsterer
J Haeberle
J Häberle
J Muenzer
J Muenzer
J Vockley
JE Wraith
JE Wraith
JP Rake
Judith Armstrong
KM Camp
Ksenija Fumic
KT Fahnehjelm
Linda Cassis
Ljerka Cvitanović-Šojat
M Barba-Romero
M Eccles
M Scarpa
M. Mar O’Callaghan
Maria Julieta González
Marta Molero-Luis
Maurizio Scarpa
MC Brouwers
MC Patterson
Mercedes Casado
MH Ru De
MH Ru De
MR Baumgartner
National Institutes of Health Consensus Development Panel
P Cochat
P Kaplan
P Shekelle
PS Kishnani
PS Kishnani
R El-Abassi
R Giugliani
Rafael Artuch
Raquel Montero
RC Ahrens-Nicklas
RJ Desnick
RWM Vernooij
RY Wang
S Kölker
S Kölker
S Vom Dahl
S Woolf
SA Birken
Silvia Meavilla-Olivas
T Semlitsch
U Siering
V Devalia
VB Kes
Viviana Giannuzzi
W Terryn
Ángels Garcia-Cazorla
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
Full text link
Crossref
Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
Author
AJ Beuren
AJ Matisoff
+19 more
C Quinlan
F Denoyelle
GA Evans
H Yang
I Muntean
I Thiffault
JM Friedman
L Farnaes
M John
MS Sharkey
MS Zimmerman
NB Bishop
NM Sweeney
R Formigari
RC Ahrens-Nicklas
S Flygare
VSPB Durvasula
W Wu
WG Albergotti
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
Author
Ashley M. Whitaker
C Thauvin-Robinet
+34 more
Can Ficicioglu
CO Harding
D Martinelli
DS Froese
DS Rosenblatt
DS Rosenblatt
FK Trefz
H Ogier de Baulny
HL Levy
I Manoli
I Manoli
IV Matos
JD Weisfeld-Adams
JD Weisfeld-Adams
Jennifer Blair
Jessica Burfield
JP Lerner-Ellis
JP Lerner-Ellis
JT Brosnan
KA Strauss
KA Strauss
KP Block
L Bonafede
Ligia Brochi
M Huemer
Marc Yudkoff
N Carrillo-Carrasco
N Carrillo-Carrasco
Paige Kaplan
RC Ahrens-Nicklas
Rebecca C. Ahrens-Nicklas
S Fischer
Sanmati Cuddapah
SH Mudd
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Medium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population
Author
Ahrens‐Nicklas RC
Aksglaede L
+38 more
Amaral AU
Andresen BS
Arnold GL
Chien YH
Drendel HM
Ensenauer R
Fu X
Gartner V
Gramer G
Gregersen N
Grosse SD
Grünert SC
Hall PL
Iafolla AK
Jinjun C
Kang E
Kimura M
Li X
Liang C
Maclean K
Maier EM
Meng X
Nagao M
Najdekr L
Purevsuren J
Randall M
Sander S
Schatz UA
Staels W
Tajima G
Tan JQ
Tanaka K
Touma EH
Touw CM
Van Hove JL
Wang SS
Woo HI
Zytkovicz TH
Publication venue
'Wiley'
Publication date
Field of study
No full text
Crossref
Associations between the adherence to the Mediterranean diet and cardiorespiratory fitness with total and central obesity in preschool children: the PREFIT project
Author
A Abdullah
A Cattaneo
+35 more
A Jennings
B Martinez-Tellez
C Cadenas-Sanchez
C Cadenas-Sanchez
C Lazarou
C Lydakis
Cristina Cadenas-Sanchez
E Martinez
F Martino
FB Ortega
FB Ortega
Francisco B. Ortega
G Tognon
H Schroder
I Labayen
Idoia Labayen Goñi
JC Lo
JP Reis
JR Ruiz
L Pereira-da-Silva
L Serra-Majem
L Serra-Majem
Lide Arenaza
M de Onis
M Ng
María Medrano
Natalia García
P Farajian
P Henriksson
R Roccaldo
RC Mollard
SA Cunningham
T Liyanage
TA Nicklas
W Ahrens
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey
Author
A Bush
A-K Rother
+43 more
AL Weathers
Ann-Katrin Rother
B Seymour
C Cunningham-Rundles
C Hallal
Christian Klemann
Christiane Stieber
D Hughes
F Bolger
F Sedel
Francesc Palau
Frank Klawonn
H Lehman
I Knight
JJ Gagnier
K Bhattacharya
K Mayer
Lorenz Grigull
M Turoff
M Váquez-Costa
Martin Mücke
ME Coren
MG Bouwman
N Guffon
N Prencipe
P Pierucci
PS Kishnani
R Grahame
R Linertová
RC Ahrens-Nicklas
RT Wang
S Aymé
S Aymé
S Berody
S Keeney
Sandra Mehmecke
SH Wong
Susanne Blöß
U Kuckartz
Ulrike Schumacher
Urs Mücke
Werner Lechner
Xiaowei Kortum
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
Psychiatric Symptoms Associated with Inborn Errors of Metabolism
Author
A Benussi
A Bessey
+76 more
A Bone
A Ko
A Reif
A Sun
AW El-Hattab
B Fowler
B Regland
C Demily
CM Kassmann
CM Mak
D Martinelli
D Watkins
DM Sproule
EH McCafferty
F Andrade
F Feillet
F Wu
FH Nazki
FM Platt
GA Horvath
GA McDowell
GI Hurowitz
H Manceau
HW Moser
I Ferrer
J Berger
J Muenzer
J-M Saudubray
K Tsuboi
KJ Erlich
KR Kaufman
KV Haren
M Strölin
M Walterfang
MC Patterson
MC Tonini
MD Ris
MJ Gambello
ML Batshaw
MM Ryan
MT Vanier
N Blau
N Ellencweig
N Gordon
NG Simon
O Bonnot
O Staretz-Chacham
PC Zimbrean
R Rosencrantz
RC Ahrens-Nicklas
RC Gallagher
RD Geraets
S Gairing
S Garside
S Holroyd
S Holve
S Kemp
S Lutsenko
S Nia
S Ramakrishnan
S Sandu
S Wang
SB Turkel
SL Cotman
T Fassier
T Zelei
TM Hyde
TR Dening
U Yadav
V Opoka-Winiarska
V Sriretnakumar
VR Thurlow
VV Solovyeva
W Kitchin
Y Estrov
YJ Trakadis
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
Author
A McKenna
A Nesbitt
+61 more
Addie Nesbitt
AJ Tanaka
Alisha Wilkens
AM Wenger
AS Gargis
Avni Santani
BB Simen
Bo Zhang
CA Valencia
Chao Wu
DG MacArthur
Dimitri Monos
DS Grosu
E Tham
EG Seaby
Elaine Zackai
Elizabeth Bhoj
Elizabeth DeChene
Elizabeth Denenberg
Emma Bedoukian
Eric Marsh
FR Lepri
HL Rehm
Holly Dubbs
I Schanze
I Schrijver
I van der Burgt
Ian Krantz
J Wang
Jeffrey Pennington
JM Zook
Kajia Cao
KD Christensen
Kristin McDonald Gibson
Laura Conlin
LE Vissers
LG Shaffer
Livija Medne
LM Baudhuin
Mahdi Sarmady
Matt Deardorff
MD Linderman
Minjie Lou
MJ Landrum
ML Speir
N Aziz
N Vasli
Nancy Spinner
PD Stenson
Peter S White
PN Robinson
PN Robinson
Qiaoning Guan
R Buchert
RC Ahrens-Nicklas
S Richards
Xiangdong Zhou
Y Aoki
Z Stark
Z Stark
Zhenming Yu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Perceived effective and feasible strategies to promote healthy eating in young children: focus groups with parents, family child care providers and daycare assistants
Author
A Bandura
A Jansen
+66 more
A Knowlden
A Lakkakula
A Remington
A Tong
A Tovar
A Tovar
AC Lindsay
AS Ammerman
AT Galloway
AT Galloway
BF Skinner
C Schwartz
CA Vereecken
Caroline Braet
CE Holley
CF Lowe
CJ Gerrish
CK Conners
CL Ogden
CM Mann
DL Olds
E Addessi
EL Deci
Ellen Moens
HM Hendy
HM Hendy
I Huybrechts
IP Pavlov
J Attride-Stirling
J Blissett
J Greenhalgh
J Newman
J Wardle
J Wardle
JA Desor
JE Steiner
K Rhee
Kind & Gezin
KW Cullen
L Vandeweghe
Laura Vandeweghe
Leentje Vervoort
LJ Cooke
LJ Cooke
LL Birch
LL Birch
LL Birch
LL Birch
LV Harper
MB Harris
N Larson
Nemours Children’s Health System
PL Pipes
RC Whitaker
S Anzman-Frasca
Sandra Verbeken
SB Sisson
SD Baxter
SG Trost
TA Nicklas
TJC Boulton
U Stockhorst
W Ahrens
W Miller
Wendy Van Lippevelde
WR Batsell
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Gender Differences in Electrophysiological Gene Expression in Failing and Non-Failing Human Hearts
Author
A Dhala
AF James
+62 more
AJ Workman
AJ Workman
AL Bui
Alena Talkachova
AS Go
AV Glukhov
AV Glukhov
AV Panfilov
BJ Brundel
C Antzelevitch
C Antzelevitch
C Antzelevitch
C Marionneau
Christina M. Ambrosi
D Dobrev
D Ramaekers
D Wolbrette
DA Iacobas
DM Roden
DR Van Wagoner
DR Van Wagoner
DR Van Wagoner
E Soltysinska
EH Locati
EJ Benjamin
GF Tomaselli
Igor R. Efimov
J Borlak
Jeanne M. Nerbonne
JH Burke
JM Nerbonne
JM Nerbonne
Kathryn A. Yamada
KJ Livak
KR Boheler
L Yue
M Shanmugam
MB Eisen
MC Brandt
MJ Janse
N Abi-Gerges
N Gaborit
N Gaborit
N Gaborit
N Gronich
NJ Chandler
P Ellinghaus
P Kligfield
PA McKee
RC Ahrens-Nicklas
RF Bosch
S Kaab
S Nattel
S Nattel
S Zicha
SA Hunt
SN Ebert
T Aiba
TJ Wang
TP Flagg
VV Fedorov
WB Kannel
Publication venue
'Public Library of Science (PLoS)'
Publication date
Field of study
No full text
Crossref
1
2