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3 research outputs found
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Author
Dunø Morten
Ek Jakob
+8 more
Grønborg Sabine
Joensen Fróði
Larsen Karen Bonde
Larsen Vibeke André
Petkov Yanko
Risom Lotte
Scheie David
Østergaard Elsebet
Publication venue
'Springer Science and Business Media LLC'
Publication date
01/01/2018
Field of study
No full text
Copenhagen University Research Information System
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Author
A Sferra
B Pode-Shakked
+23 more
BN Smith
David Scheie
E Flex
E Ostergaard
E Ostergaard
Elsebet Ostergaard
Elsebet Østergaard
Fróði Joensen
J Curiel
Jakob Ek
JW Francis
Karen Bonde Larsen
LC Kapitein
Lotte Risom
MA Tischfield
Morten Dunø
MW Breuss
N Miyake
S Edvardson
Sabine Grønborg
T Ikeda
Vibeke André Larsen
Yanko Petkov
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
Author
A Navarro-Sastre
Alberto Burlina
+62 more
Alfred Peter Born
Andrés Nascimento Osorio
B Janssen
Berit Woldseth
C Lamperti
C Phoenix
C Rouzier
Carlo Dionisi-Vici
Daniela Buhas
Daniela Verrigni
DM Kirby
DO Lambeth
DO Lambeth
Duccio M. Cordelli
E Blakely
E Jaberi
E Morava
E Ostergaard
E Ostergaard
E Ostergaard
Elisabeth Holme
Elsebet Ostergaard
Enrico Bertini
F Wibrand
Filippo Maria Santorelli
Flemming Wibrand
Fróði Joensen
Gabriela Stangoni
H Rivera
Hernan Amartino
Isabelle Redonnet-Vernhet
JD Johnson
JL Hove Van
Johanna Uusimaa
Karin Naess
Kirstine Ravn
LM Randolph
M Bugiani
MA Birch-Machin
Magnhild Rasmussen
Mar Tulinius
Marzia Bianchi
MH Tulinius
ML Landsverk
Morten Duno
Mustafa Batbayli
Niklas Darin
O Elpeleg
O Sakamoto
Paivi Vieira
Paolo Prontera
Philippe Jouvencel
R Carrozzo
Rene de Coo
RJ Rodenburg
Robert McFarland
Robert W. Taylor
Rosalba Carrozzo
S Matilainen
Samir Mesli
T Honzik
V Valayannopoulos
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref