C. Ockeloen
发表
A. Kuijpers-Jagtman,
T. Kleefstra,
C. Carels,
2014,
European Journal of Human Genetics.
N. de Leeuw,
B. D. de Vries,
C. Ockeloen,
2010,
Clinical dysmorphology.
J. Egger,
C. Ockeloen,
T. Kleefstra,
2017,
Front. Behav. Neurosci..
D. Horn,
S. Mundlos,
Hitesh Shah,
2011,
Journal of Medical Genetics.
C. Ockeloen,
2010
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Julie O. Culver,
L. Kiemeney,
M. Kloor,
2011,
The Lancet. Oncology.
R. Pfundt,
T. Strom,
D. Wieczorek,
2015,
American journal of human genetics.
B. V. van Bon,
A. V. Vulto-van Silfhout,
L. Vissers,
2013,
Journal of Medical Genetics.
H. Scheffer,
I. B. Mathijssen,
B. Faas,
2013,
European Journal of Human Genetics.
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome
Michelle S. Miller,
G. Mortier,
M. Simpson,
2014,
European Journal of Human Genetics.
P. Pizcueta,
S. Kalko,
N. Zapater,
2005,
The Journal of Immunology.
E. van Wijk,
T. Peters,
H. Kremer,
2022,
NPJ genomic medicine.
L. Vissers,
A. Hoischen,
H. Prokisch,
2022,
Journal of inherited metabolic disease.
B. J. van den Bosch,
M. Coenen,
J. Bierau,
2021,
Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners.
L. Vissers,
A. Hoischen,
J. Clayton-Smith,
2021,
European Journal of Human Genetics.
R. Pfundt,
T. Strom,
D. Wieczorek,
2015,
Human Genetics.
B. V. van Bon,
E. Bongers,
D. Newbury,
2011,
Molecular Syndromology.
Golder N Wilson,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
K. Zimmermann,
S. Lau,
U. Wahn,
2012,
The Journal of allergy and clinical immunology.
K. Nathanson,
J. Graham,
T. Pierson,
2019,
American journal of medical genetics. Part C, Seminars in medical genetics.
C. Marcelis,
D. Koolen,
J. Cobben,
2013,
Clinical dysmorphology.
L. S. Schultze Kool,
X. Jeunemaître,
J. Albuisson,
2016,
International journal of cardiology.
Baralle,
A. V. Vulto-van Silfhout,
L. Vissers,
2022,
medRxiv.
A. V. Vulto-van Silfhout,
R. Pfundt,
B. D. de Vries,
2019,
Genetics in Medicine.
M. Rubini,
T. Kleefstra,
H. van Bokhoven,
2016,
Human Genetics.
Bradley P. Coe,
B. Coe,
J. Schuurs-Hoeijmakers,
2016,
American journal of human genetics.
N. de Leeuw,
B. Franke,
M. Klein,
2019,
Journal of child psychology and psychiatry, and allied disciplines.
Bradley P. Coe,
Jessie H. Conta,
B. Coe,
2015,
European Journal of Human Genetics.
J. Rosenfeld,
A. V. Vulto-van Silfhout,
B. D. de Vries,
2019,
Biological Psychiatry.
G. Vriend,
R. Pfundt,
T. Rinne,
2017,
American journal of medical genetics. Part A.
L. Vissers,
N. Brown,
B. D. de Vries,
2021,
medRxiv.
K. Devriendt,
A. Nordgren,
F. de Zegher,
2015,
Hormone Research in Paediatrics.
B. V. van Bon,
N. de Leeuw,
H. Brunner,
2014,
European Journal of Human Genetics.
T. Kleefstra,
J. Egger,
C. Ockeloen,
2019,
Genes, brain, and behavior.
L. Vissers,
R. Pfundt,
O. Devinsky,
2021,
medRxiv.
Identification of causative variants in TXNL4A in Burn-McKeown syndrome and isolated choanal atresia
R. Pfundt,
J. Hurst,
A. V. D. van den Ouweland,
2017,
European Journal of Human Genetics.
J. Graham,
F. Alkuraya,
N. Hauser,
2021,
American journal of medical genetics. Part A.
B. V. van Bon,
N. de Leeuw,
H. Brunner,
2015,
European Journal of Human Genetics.
L. Vissers,
N. Brown,
B. D. de Vries,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
R. Pfundt,
P. Lockhart,
S. Mundlos,
2019,
American journal of human genetics.
L. Vissers,
R. Pfundt,
R. Pettinato,
2019,
European Journal of Human Genetics.
E. Eichler,
J. Vincent,
D. Nickerson,
2019,
Genetics in Medicine.
L. Vissers,
A. Hoischen,
R. Pfundt,
2016,
Genetics in Medicine.
R. Pfundt,
T. Strom,
D. Wieczorek,
2015,
Human Genetics.
W. Staal,
T. Kleefstra,
H. van Bokhoven,
2017,
American journal of medical genetics. Part A.
R. Pfundt,
W. Verhoeven,
T. Kleefstra,
2019,
Molecular genetics & genomic medicine.
T. Kleefstra,
C. Carels,
C. Ockeloen,
2014,
Nederlands tijdschrift voor tandheelkunde.
M. Rubini,
T. Kleefstra,
H. van Bokhoven,
2016,
Human Genetics.
Patricia H. Wheeler,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
E. Bongers,
N. Pachter,
J. Denecke,
2021,
European Journal of Human Genetics.
Golder N Wilson,
J. Rosenfeld,
R. Pfundt,
2022,
Molecular Psychiatry.
L. Vissers,
R. Rodenburg,
M. Coenen,
2021,
European journal of human genetics : EJHG.
A. Kuijpers-Jagtman,
T. Kleefstra,
I. Feenstra,
2014,
Clinical genetics.
J. Graham,
T. Pierson,
S. Lynch,
2022,
American journal of medical genetics. Part A.
J. Clayton-Smith,
M. Bowden,
C. Ockeloen,
2013,
Archives of Disease in Childhood.
E. Zackai,
N. Fleischer,
K. Boycott,
2019,
American journal of medical genetics. Part A.
E. van Wijk,
H. Kremer,
F. Cremers,
2022,
npj Genomic Medicine.
R. Pfundt,
N. Alfen,
A. Beggs,
2012,
Neuromuscular Disorders.
R. Pfundt,
J. Howe,
H. Brunner,
2023,
Human molecular genetics.
B. Franke,
M. Klein,
M. Naber,
2019,
European Neuropsychopharmacology.
B. V. van Bon,
A. V. Vulto-van Silfhout,
L. Vissers,
2023,
Nature Genetics.
S. Robertson,
K. Devriendt,
M. Digilio,
2023,
Journal of Medical Genetics.
B. V. van Engelen,
N. Voermans,
C. Erasmus,
2015,
European Journal of Ophthalmology.
K. Zimmermann,
S. Lau,
U. Wahn,
2012,
Journal of Allergy and Clinical Immunology.
S. Sisodiya,
A. Bayat,
T. Kleefstra,
2023,
Epilepsia open.
R. Pfundt,
T. Strom,
D. Wieczorek,
2015,
American Journal of Human Genetics.
B. V. van Bon,
A. V. Vulto-van Silfhout,
L. Vissers,
2024,
Nature medicine.
J. Schuurs-Hoeijmakers,
R. Pfundt,
T. Kleefstra,
2023,
medRxiv.
N. de Leeuw,
S. Twigg,
A. Wilkie,
2023,
Genetics in medicine : official journal of the American College of Medical Genetics.