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Heijsman, Daphne
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Online (46)
Mediatypes
Articles (Online) (12)
OpenAccess-fulltext (34)
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1
The proprotein convertase FURIN is a novel aneurysm predisp..:
He, Zongsheng
;
IJpma, Arne S
;
Vreeken, Dianne
...
Cardiovascular Research. , 2024
Link:
https://doi.org/10.1093/..
?
2
FLNC Missense Variants in Familial Noncompaction Cardiomyop..:
van Waning, Jaap
;
Hoedemaekers, Yvonne
;
te Rijdt, Wouter
...
Cardiogenetics. 9 (2019) 1 - p. 8181 , 2019
Link:
https://doi.org/10.4081/..
?
3
Systematic Review of Genotype‐Phenotype Correlations in Non..:
van Waning, Jaap I.
;
Moesker, Joost
;
Heijsman, Daphne
..
Journal of the American Heart Association. 8 (2019) 23 - p. , 2019
Link:
https://doi.org/10.1161/..
?
4
Heterogeneous clinical phenotypes and cerebral malformation..:
Vandervore, Laura V
;
Schot, Rachel
;
Kasteleijn, Esmee
...
Brain. 142 (2019) 4 - p. 867-884 , 2019
Link:
https://doi.org/10.1093/..
?
5
Correction: Human mutations in integrator complex subunits ..:
Oegema, Renske
;
Baillat, David
;
Schot, Rachel
...
PLOS Genetics. 13 (2017) 8 - p. e1006923 , 2017
Link:
https://doi.org/10.1371/..
?
6
Human mutations in integrator complex subunits link transcr..:
Oegema, Renske
;
Baillat, David
;
Schot, Rachel
...
PLOS Genetics. 13 (2017) 5 - p. e1006809 , 2017
Link:
https://doi.org/10.1371/..
?
7
First genetic analysis of aneurysm genes in familial and sp..:
van de Luijtgaarden, Koen M.
;
Heijsman, Daphne
;
Maugeri, Alessandra
...
Human Genetics. 134 (2015) 8 - p. 881-893 , 2015
Link:
https://doi.org/10.1007/..
?
8
Tumor-specific mutations in low-frequency genes affect thei..:
Erdem-Eraslan, Lale
;
Heijsman, Daphne
;
de Wit, Maurice
...
Journal of Neuro-Oncology. 122 (2015) 3 - p. 461-470 , 2015
Link:
https://doi.org/10.1007/..
?
9
Pollitt syndrome patients carry mutation in TTDN1:
Swagemakers, Sigrid M.A.
;
Jaspers, Nicolaas G.J.
;
Raams, Anja
...
Meta Gene. 2 (2014) - p. 616-618 , 2014
Link:
https://doi.org/10.1016/..
?
10
Boston type craniosynostosis: Report of a second mutation i..:
Florisson, Joyce M.G.
;
Verkerk, Annemieke J.M.H.
;
Huigh, Daphne
...
American Journal of Medical Genetics Part A. 161 (2013) 10 - p. 2626-2633 , 2013
Link:
https://doi.org/10.1002/..
?
11
Huvariome: a web server resource of whole genome next-gener..:
Stubbs, Andrew
;
McClellan, Elizabeth A
;
Horsman, Sebastiaan
...
Journal of Clinical Bioinformatics. 2 (2012) 1 - p. 19 , 2012
Link:
https://doi.org/10.1186/..
?
12
Progressive cerebellar atrophy and polyneuropathy: expandin..:
Poulton, Cathryn
;
Oegema, Renske
;
Heijsman, Daphne
...
neurogenetics. 14 (2012) 1 - p. 43-51 , 2012
Link:
https://doi.org/10.1007/..
?
13
Heterogeneous clinical phenotypes and cerebral malformation..:
Vandervore, Laura V
;
Schot, Rachel
;
Kasteleijn, Esmee
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6439326/. , 2019
Link:
http://www.ncbi.nlm.nih...
?
14
Heterogeneous clinical phenotypes and cerebral malformation..:
Vandervore, Laura V
;
Schot, Rachel
;
Kasteleijn, Esmee
...
https://research.rug.nl/en/publications/00b35166-d08e-4bbb-a3f7-1a54850d4541. , 2019
Link:
https://hdl.handle.net/1..
?
15
Systematic Review of Genotype-Phenotype Correlations in Non..:
Waning, J. (Jaap) van
;
Moesker, J. (Joost)
;
Heijsman, D. (Daphne)
..
http://repub.eur.nl/pub/122167. , 2019
Link:
http://repub.eur.nl/pub/..
1-15
