C. Stumpel
发表
M. Otter,
C. Stumpel,
T. Amelsvoort,
2018
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Michael J Parker,
Katrina Tatton-Brown,
Christian Gilissen,
2015,
American journal of human genetics.
R. Hennekam,
B. Gener,
C. Turnbull,
2020,
Clinical genetics.
R. Zahedi,
A. Sickmann,
C. Stumpel,
2020,
Scientific Reports.
M. U. Mirza,
F. Tamanini,
P. Froguel,
2018,
Nature Genetics.
A. Hoischen,
A. Need,
D. Goldstein,
2017,
American journal of human genetics.
G. Dinant,
A. Muijtjens,
J. Rethans,
2015,
PloS one.
Nadia J. T. Roumans,
E. Mariman,
C. Stumpel,
2016,
British Journal of Nutrition.
R. Pfundt,
D. Steinemann,
B. Menten,
2015,
Orphanet Journal of Rare Diseases.
R. Siebert,
M. Blok,
R. Sciot,
2022,
Familial Cancer.
J. Rosenfeld,
A. Hamosh,
Yaping Yang,
2016,
Genetics in Medicine.
B. D. de Vries,
P. Fergelot,
W. Reardon,
2016,
American journal of medical genetics. Part A.
C. Stumpel,
A. Stegmann,
Etienne Janssen,
2020,
Clinical dysmorphology.
L. Vissers,
R. Pfundt,
N. de Leeuw,
2022,
European Journal of Human Genetics.
Golder N Wilson,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
C. Stumpel,
Sietse M. Aukema,
D. Paley,
2021,
American journal of medical genetics. Part A.
T. van Amelsvoort,
M. Otter,
C. Stumpel,
2022,
Cerebral cortex.
C. Stumpel,
M. Anten,
R. Wierts,
2018,
European Thyroid Journal.
A. V. Vulto-van Silfhout,
R. Pfundt,
B. D. de Vries,
2019,
Genetics in Medicine.
A. Pagnamenta,
Jenny C. Taylor,
M. Roselló,
2022,
Genetics in medicine : official journal of the American College of Medical Genetics.
C. Stumpel,
L. Rhijn,
H. Staal,
2014
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E. Zackai,
H. Hakonarson,
H. Brunner,
2022,
HGG advances.
L. Vissers,
B. D. de Vries,
E. Eichler,
2022,
Translational Psychiatry.
M. Kempers,
V. Verhoeven,
J. M. van de Kamp,
2017,
European journal of medical genetics.
C. Mathew,
M. Simpson,
N. Mailand,
2022,
Nature Communications.
E. Speel,
C. Stumpel,
E. Kamsteeg,
2016,
Fetal and pediatric pathology.
C. Stumpel,
C. Webers,
A. Stegmann,
2017,
Ophthalmic genetics.
C. Stumpel,
P. Nelemans,
M. Anten,
2018,
Nuclear medicine communications.
I. Scheffer,
H. Mefford,
M. Mackay,
2020,
Genetics in Medicine.
H. Brunner,
R. Rodenburg,
C. Ferreira,
2021,
Acta Neuropathologica.
S. Scherer,
L. Vissers,
R. Pfundt,
2021,
American journal of human genetics.
Kali T. Witherspoon,
B. Coe,
K. Witherspoon,
2017,
European Journal of Human Genetics.
Bradley P. Coe,
B. Coe,
J. Schuurs-Hoeijmakers,
2016,
American journal of human genetics.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
R. Pfundt,
M. Reijnders,
T. Kleefstra,
2017,
PLoS genetics.
A. Toutain,
R. Jobling,
B. Krock,
2018,
American journal of human genetics.
H. Brunner,
R. Brandão,
A. Paulussen,
2021,
medRxiv.
R. Pfundt,
B. D. de Vries,
E. Zackai,
2020,
Genetics in Medicine.
J. Rosenfeld,
E. Roeder,
F. Xia,
2017,
American journal of human genetics.
Neil H. Parker,
Dylan M. Marchione,
R. Redon,
2020,
Science Advances.
R. Hennekam,
A. Latos-Bieleńska,
A. Shaw,
2015,
European journal of medical genetics.
Colin A. Johnson,
D. Bonthron,
C. Stumpel,
2013,
American journal of human genetics.
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
Marc S. Williams,
J. Shendure,
D. Nickerson,
2014,
American journal of human genetics.
Sahar Mansour,
Dierk Niessing,
James J Dowling,
2017,
Journal of Medical Genetics.
H. Mandel,
S. Edwards,
K. Miller,
2019,
American journal of human genetics.
D. MacArthur,
L. Vissers,
M. Reijnders,
2016,
American journal of human genetics.
A. Hoischen,
I. V. van Rooij,
H. Brunner,
2021,
Clinical genetics.
I. Simonic,
Soo-Mi Park,
D. Mitter,
2018,
Annals of neurology.
G. Rouleau,
Eunjoon Kim,
T. Kleefstra,
2015,
Human mutation.
R. Pfundt,
H. Mefford,
D. Goldstein,
2018,
Annals of neurology.
A. Hoischen,
A. Need,
D. Goldstein,
2016,
American journal of human genetics.
C. Schaaf,
C. Stumpel,
B. Horsthemke,
2020,
Orphanet Journal of Rare Diseases.
D. Pearson,
C. Stumpel,
M. Nellist,
2017,
American journal of medical genetics. Part A.
C. Stumpel,
M. Lacko,
J. Straetmans,
2016,
International journal of pediatric otorhinolaryngology.
I. Scheffer,
H. Mefford,
A. Reymond,
2022,
Epilepsia.
Patricia H. Wheeler,
A. V. Vulto-van Silfhout,
R. Pfundt,
2018,
Genetics in Medicine.
J. Verhoeven,
L. Speth,
C. Stumpel,
2019,
Neuropediatrics.
T. van Amelsvoort,
M. Otter,
C. Stumpel,
2022,
European Psychiatry.
C. Stumpel,
W. Gerver,
D. A. Schott,
2016,
Hormone Research in Paediatrics.
R. Pfundt,
M. Otter,
C. Stumpel,
2017,
Clinical case reports.
P. Germain,
T. Kleefstra,
G. Merla,
2021,
bioRxiv.
Joshua C Randall,
Tomas W. Fitzgerald,
G. J. Swaminathan,
2018,
Nature Communications.
C. Stumpel,
A. Chudley,
N. Ghali,
2020,
Journal of Pediatric Genetics.
K. Devriendt,
M. Blok,
C. Stumpel,
2016,
American journal of medical genetics. Part A.
C. Stumpel,
J. Bierau,
J. Plat,
2021,
Hormone Research in Paediatrics.
C. Stumpel,
W. Gerver,
Bas Penders,
2016,
American journal of medical genetics. Part A.
S. van Rijn,
C. Stumpel,
H. Swaab,
2022,
The Clinical neuropsychologist.
Saskia M. J. Hopman,
L. Vissers,
R. Pfundt,
2023,
American journal of human genetics.
C. Stumpel,
W. Gerver,
D. A. Schott,
2017,
Hormone Research in Paediatrics.
T. Kleefstra,
C. Stumpel,
P. Wingbermühle,
2019,
Journal of intellectual disability research : JIDR.
R. Pfundt,
E. van Binsbergen,
H. Brunner,
2018,
Nature Communications.
T. van Amelsvoort,
M. Otter,
C. Stumpel,
2021,
BJPsych Open.
A. Paulussen,
C. Stumpel,
J. Dreesen,
2023,
European Journal of Human Genetics.
C. Stumpel,
W. Gerver,
D. A. Schott,
2017,
Hormone Research in Paediatrics.
T. van Amelsvoort,
M. Otter,
C. Stumpel,
2022,
Journal of neurodevelopmental disorders.
C. Stumpel,
D. A. Schott,
M. Klaassens,
2018,
American journal of medical genetics. Part A.
J. Rosenfeld,
E. Roeder,
F. Xia,
2017,
American journal of human genetics.
B. D. de Vries,
P. Fergelot,
W. Reardon,
2016,
American journal of medical genetics. Part A.