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4 research outputs found
Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing
Author
Acke Frederic R.
Coucke Paul J.
+8 more
De Leeneer Kim
De Leenheer Els M. R.
De Paepe Anne
Dhooge Ingeborg
Malfait Fransiska
Mortier Geert
Steyaert Wouter
Vanakker Olivier M.
Publication venue
Publication date
01/01/2014
Field of study
No full text
Institutional Repository Universiteit Antwerpen
Cephalometrics in Stickler syndrome : objectification of the typical facial appearance
Author
Acke
Argyropoulos
+31 more
Broadbent
Dibbets
Els M.R. De Leenheer
Evans
Fransiska Malfait
Frederic R. Acke
Glander
Guy A.M. De Pauw
Herrmann
Ingeborg J. Dhooge
Kreibrog
Lavrin
Li
Li
Nowak
Opitz
Ricks
Rintala
Riolo
Rose
Saksena
Sassouni
Shprintzen
Snead
Steiner
Stickler
Suda
Tan
Temple
Weingeist
Wood
Publication venue
'Elsevier BV'
Publication date
01/01/2016
Field of study
No full text
Crossref
Ghent University Academic Bibliography
Cephalometrics in Stickler syndrome: Objectification of the typical facial appearance
Author
Acke
Argyropoulos
+31 more
Broadbent
Dibbets
Els M.R. De Leenheer
Evans
Fransiska Malfait
Frederic R. Acke
Glander
Guy A.M. De Pauw
Herrmann
Ingeborg J. Dhooge
Kreibrog
Lavrin
Li
Li
Nowak
Opitz
Ricks
Rintala
Riolo
Rose
Saksena
Sassouni
Shprintzen
Snead
Steiner
Stickler
Suda
Tan
Temple
Weingeist
Wood
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Auditory phenotype in Stickler syndrome: results of audiometric analysis in 20 patients
Author
AJ Richards
B Beer de
+26 more
E Beelen van
Els M. R. De Leenheer
EM Leenheer De
FR Acke
Fransiska Malfait
Frederic R. Acke
Freya K. Swinnen
GA Gates
H Keppler
Ingeborg J. Dhooge
JM Leijendeckers
JWI Hall
KB Shpargel
KP Hoornaert
LW Baijens
M Majava
MP Snead
PLM Huygen
PS Rose
RJ Admiraal
RJ Admiraal
S Annunen
U Khetarpal
V Pisani
YI Iwasa
YM Szymko-Bennett
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref