E. Hennekam
发表
D. Lindhout,
Y. Bronkhorst,
H. K. Ploos van Amstel,
2012,
Journal of Medical Genetics.
A. Wilde,
M. P. van den Berg,
E. Sijbrands,
2019,
Circulation. Genomic and precision medicine.
Y. Pinto,
M. P. van den Berg,
F. Asselbergs,
2017,
European journal of heart failure.
J. Buizer-Voskamp,
R. Ophoff,
R. Kahn,
2011,
Schizophrenia Research.
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
P. Nederkoorn,
A. Liston,
M. van Gijn,
2016,
Rheumatology.
L. H. van den Berg,
M. V. van Es,
J. Veldink,
2012,
PloS one.
F. Beemer,
T. D. de Koning,
E. Hennekam,
1995,
American journal of medical genetics.
R. Ophoff,
F. Baas,
F. Diekstra,
2009,
Neurology.
L. H. van den Berg,
J. Veldink,
H. J. Schelhaas,
2013,
Amyotrophic lateral sclerosis & frontotemporal degeneration.
K. Dahan,
O. Devuyst,
N. Knoers,
2015,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
R. Hennekam,
T. Prescott,
L. Al-Gazali,
2009,
Nature Genetics.
D. Lindhout,
Y. Bronkhorst,
M. Cune,
2017
.
A. Uitterlinden,
J. Buizer-Voskamp,
L. Kiemeney,
2013,
Human Genetics.
Leonard H van den Berg,
P. D. de Bakker,
L. H. van den Berg,
2012,
Human molecular genetics.
A. Wilde,
M. P. van den Berg,
G. T. te Meerman,
2017,
Circulation. Cardiovascular genetics.
R. Ophoff,
H. Engeland,
R. Kahn,
2011,
Molecular Psychiatry.
Deborah I. Ritter,
Wigard P. Kloosterman,
Stef van Lieshout,
2016,
The Journal of clinical investigation.
E. Skordalakes,
L. Showe,
M. Veltkamp,
2022,
The Journal of experimental medicine.
J. Buizer-Voskamp,
R. Ophoff,
R. Kahn,
2012,
Genetics in Medicine.
Edwin Cuppen,
Christine Klein,
Dagmar Verbaan,
2011,
Annals of neurology.
R. Wolthuis,
Q. Waisfisz,
P. Postmus,
2023,
Journal of Human Genetics.
R. Sinke,
P. Pearson,
E. Ippel,
2004,
European Journal of Human Genetics.
P. Nederkoorn,
A. Liston,
M. van Gijn,
2015,
Pediatric Rheumatology.
J. Buizer-Voskamp,
L. Kiemeney,
C. Sabatti,
2013,
Human Genetics.
K. Dahan,
O. Devuyst,
N. Knoers,
2015,
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.