J. van Reeuwijk
发表
R. Roepman,
U. Wolfrum,
F. Kersten,
2010,
Investigative ophthalmology & visual science.
Christian Gilissen,
Annette Schenck,
Koenraad Devriendt,
2012,
American journal of human genetics.
Colin A. Johnson,
T. Gibson,
M. Huynen,
2019,
PloS one.
Christian Gilissen,
Alexander Hoischen,
Han G Brunner,
2010,
American journal of human genetics.
S. Letteboer,
R. Roepman,
U. Wolfrum,
2020,
Proceedings of the National Academy of Sciences.
S. Levy,
C. Dang,
R. Lewis,
2010,
Nature Genetics.
Sander B Nabuurs,
Lionel Willatt,
Jamel Chelly,
2006,
American journal of human genetics.
P. V. van Diest,
R. Roepman,
J. van Reeuwijk,
2013,
The Journal of pathology.
Colin A. Johnson,
Robin van der Lee,
T. Gibson,
2017,
bioRxiv.
L. Hetterschijt,
R. Roepman,
N. Sorusch,
2015,
Genome Biology.
H. Brunner,
J. van Reeuwijk,
H. van Bokhoven,
2007,
Human Genetics.
L. Vissers,
R. Pfundt,
N. de Leeuw,
2022,
European Journal of Human Genetics.
Colin A. Johnson,
Teunis J. P. van Dam,
J. Shendure,
2015,
Nature Cell Biology.
J. van Reeuwijk,
T. Roscioli,
H. van Bokhoven,
2010,
Clinical genetics.
Baralle,
A. V. Vulto-van Silfhout,
L. Vissers,
2022,
medRxiv.
R. Roepman,
M. Ueffing,
J. van Reeuwijk,
2017,
Human molecular genetics.
J. Lupski,
D. Muzny,
S. Jhangiani,
2015,
American journal of human genetics.
E. Bertini,
F. Muntoni,
H. Brunner,
2006,
Human mutation.
M. Huynen,
C. Walsh,
F. Muntoni,
2005,
Journal of Medical Genetics.
Caitlin V. Miller,
D. Nickerson,
M. Bamshad,
2020,
The Journal of clinical investigation.
S. Letteboer,
R. Roepman,
M. Ueffing,
2011,
Human molecular genetics.
C. Klaver,
A. D. den Hollander,
S. Letteboer,
2014,
American journal of human genetics.
J. Schuurs-Hoeijmakers,
H. Mandel,
J. van Reeuwijk,
2011,
PLoS genetics.
Saskia D. Hiltemann,
Andrew P. Stubbs,
E. van Enckevort,
2022,
Scientific Data.
L. Vissers,
R. Pfundt,
O. Devinsky,
2021,
medRxiv.
Shane A. McCarthy,
R. Durbin,
Klaudia Walter,
2016,
Nature Communications.
G. Mardon,
S. Wu,
S. Letteboer,
2015,
Human molecular genetics.
H. Brunner,
J. van Reeuwijk,
H. van Bokhoven,
2004,
Clinical genetics.
J. van Reeuwijk,
L. Hoefsloot,
H. van Bokhoven,
2010,
Brain : a journal of neurology.
Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker–Warburg syndrome
W. Halliday,
K. Buysse,
D. Stemple,
2013,
Human molecular genetics.
I. V. van Rooij,
E. Bongers,
R. Roepman,
2018,
Pediatric Nephrology.
R. Roepman,
N. Sebire,
M. Ueffing,
2013,
Nature Genetics.
Christian Gilissen,
Han G. Brunner,
Michael F. Buckley,
2012,
Nature Genetics.
S. Cevik,
S. Letteboer,
L. Hetterschijt,
2013,
PLoS genetics.
Caitlin V. Miller,
D. Nickerson,
M. Bamshad,
2019,
bioRxiv.
R. Roepman,
M. Ueffing,
A. Wittinghofer,
2015,
Structure.
R. Roepman,
J. van Reeuwijk,
H. Arts,
2011,
Human molecular genetics.
R. Roepman,
M. Ueffing,
J. van Reeuwijk,
2011,
Cilia.
J. van Reeuwijk,
B. Ahmer,
F. Heffron,
1998,
Journal of bacteriology.
J. van Reeuwijk,
B. Ahmer,
F. Heffron,
1999,
Molecular Microbiology.
Marius Ueffing,
Karsten Boldt,
R. Roepman,
2009,
Methods in cell biology.
T. Gibson,
L. Hetterschijt,
R. Roepman,
2015,
PLoS genetics.
Gail Clement,
Jie Huang,
Inês Barroso,
2016,
Nature Communications.
T. Gibson,
R. Roepman,
M. Ueffing,
2014,
Molecular & Cellular Proteomics.
Tom R. Gaunt,
Thomas M. Keane,
Colin A. Johnson,
2015,
Nature Communications.
L. Vissers,
A. Hoischen,
N. de Leeuw,
2023,
HGG advances.
B. V. van Bon,
A. V. Vulto-van Silfhout,
L. Vissers,
2023,
Nature Genetics.
T. Gibson,
R. Roepman,
M. Ueffing,
2014,
Molecular & Cellular Proteomics.
J. van Reeuwijk,
T. Roscioli,
H. van Bokhoven,
2010,
Clinical genetics.
B. V. van Bon,
A. V. Vulto-van Silfhout,
L. Vissers,
2024,
Nature medicine.