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Rump, Patrick
176
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Online (176)
Mediatypes
Articles (Online) (64)
OpenAccess-fulltext (112)
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1
Novel MUC1 variant identified by massively parallel sequenc..:
de Haan, Amber
;
van Eerde, Albertien M.
;
Eijgelsheim, Mark
...
Kidney International. 103 (2023) 5 - p. 986-989 , 2023
Link:
https://doi.org/10.1016/..
?
2
DNA methylation episignature for Witteveen-Kolk syndrome du..:
Coenen-van der Spek, Jet
;
Relator, Raissa
;
Kerkhof, Jennifer
...
Genetics in Medicine. 25 (2023) 1 - p. 63-75 , 2023
Link:
https://doi.org/10.1016/..
?
3
De novo variants in EMC1 lead to neurodevelopmental delay a..:
Chung, Hyung-Lok
;
Rump, Patrick
;
Lu, Di
...
Human Molecular Genetics. 31 (2022) 19 - p. 3231-3244 , 2022
Link:
https://doi.org/10.1093/..
?
4
MO034: Novel MUC1 variant identified by massively parallel ..:
de Haan, Amber
;
Eijgelsheim, Mark
;
Rump, Patrick
...
Nephrology Dialysis Transplantation. 37 (2022) Supplement_3 - p. , 2022
Link:
https://doi.org/10.1093/..
?
5
Biallelic loss-of-function variants in RABGAP1 cause a nove..:
Oh, Rachel Youjin
;
Deshwar, Ashish R.
;
Marwaha, Ashish
...
Genetics in Medicine. 24 (2022) 11 - p. 2399-2407 , 2022
Link:
https://doi.org/10.1016/..
?
6
Quantitative facial phenotyping for Koolen-de Vries and 22q..:
Dingemans, Alexander J. M.
;
Stremmelaar, Diante E.
;
van der Donk, Roos
...
European Journal of Human Genetics. 29 (2021) 9 - p. 1418-1423 , 2021
Link:
https://doi.org/10.1038/..
?
7
Changes in empowerment and anxiety of patients and parents ..:
Vlaskamp, Danique R.M.
;
Rump, Patrick
;
Callenbach, Petra M.C.
...
European Journal of Paediatric Neurology. 32 (2021) - p. 128-135 , 2021
Link:
https://doi.org/10.1016/..
?
8
Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:
Chowdhury, Fuad
;
Wang, Lei
;
Al-Raqad, Mohammed
...
Genetics in Medicine. 23 (2021) 7 - p. 1234-1245 , 2021
Link:
https://doi.org/10.1038/..
?
9
Etiological diagnosis in limb reduction defects and the num..:
Bergman, Jorieke E. H.
;
Löhner, Katharina
;
van der Sluis, Corry K.
..
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 2909-2918 , 2020
Link:
https://doi.org/10.1002/..
?
10
PRRT2-related phenotypes in patients with a 16p11.2 deletio:
Vlaskamp, Danique R.M.
;
Callenbach, Petra M.C.
;
Rump, Patrick
...
European Journal of Medical Genetics. 62 (2019) 4 - p. 265-269 , 2019
Link:
https://doi.org/10.1016/..
?
11
De aanvalspoli voor kinderen in het Martiniziekenhuis: Opze..:
Roelfsema, Vincent
;
Doornebal, Nynke
;
Arends, Marleen
...
Epilepsie, periodiek voor professionals. 17 (2019) 2 - p. 7-9 , 2019
Link:
https://doi.org/10.54160..
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12
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause I..:
Balak, Chris
;
Benard, Marianne
;
Schaefer, Elise
...
The American Journal of Human Genetics. 105 (2019) 3 - p. 509-525 , 2019
Link:
https://doi.org/10.1016/..
?
13
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/..
?
14
Genotyperen en fenotyperen van epilepsie bij kinderen:
Callenbach, Petra
;
Rump, Patrick
Epilepsie, periodiek voor professionals. 17 (2019) 3 - p. 19-21 , 2019
Link:
https://doi.org/10.54160..
?
15
Mutations in PIK3C2A cause syndromic short stature, skeleta..:
Tiosano, Dov
;
Baris, Hagit N.
;
Chen, Anlu
...
PLOS Genetics. 15 (2019) 4 - p. e1008088 , 2019
Link:
https://doi.org/10.1371/..
1-15