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Rump, Patrick
112
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1
Novel MUC1 variant identified by massively parallel sequenc..:
de Haan, Amber
;
van Eerde, Albertien M
;
Eijgelsheim, Mark
...
https://research.rug.nl/en/publications/5313e589-62f4-4e1d-894d-5d98b91c5e20. , 2023
Link:
https://hdl.handle.net/1..
?
2
DNA methylation episignature for Witteveen-Kolk syndrome du..:
Coenen-van der Spek, Jet
;
Relator, Raissa
;
Kerkhof, Jennifer
...
https://pure.eur.nl/en/publications/254b7c26-3f37-4630-aaf7-afd7f14b21e5. , 2023
Link:
https://pure.eur.nl/en/p..
?
3
Novel MUC1 variant identified by massively parallel sequenc..:
de Haan, Amber
;
van Eerde, Albertien M
;
Eijgelsheim, Mark
...
0085-2538. , 2023
Link:
https://dspace.library.u..
?
4
DNA methylation episignature for Witteveen-Kolk syndrome du..:
Coenen-van der Spek, Jet
;
Relator, Raissa
;
Kerkhof, Jennifer
...
https://pure.eur.nl/en/publications/254b7c26-3f37-4630-aaf7-afd7f14b21e5. , 2023
Link:
https://pure.eur.nl/en/p..
?
5
DNA methylation episignature for Witteveen-Kolk syndrome du..:
Coenen-van der Spek, Jet
;
Relator, Raissa
;
Kerkhof, Jennifer
...
https://research.rug.nl/en/publications/c3f7cffc-f34d-4596-879e-5fe8eca6c724. , 2023
Link:
https://hdl.handle.net/1..
?
6
De novo variants in EMC1 lead to neurodevelopmental delay a..:
Chung, Hyung-Lok
;
Rump, Patrick
;
Lu, Di
...
https://research.rug.nl/en/publications/a923dd3e-0351-4654-a465-8cf11fa638d7. , 2022
Link:
https://hdl.handle.net/1..
?
7
Biallelic loss-of-function variants in RABGAP1 cause a nove..:
Oh, Rachel Youjin
;
Deshwar, Ashish R
;
Marwaha, Ashish
...
https://research.rug.nl/en/publications/3c1f6599-bd56-4fb8-8ccc-d7740838bfa8. , 2022
Link:
https://hdl.handle.net/1..
?
8
Changes in empowerment and anxiety of patients and parents ..:
Vlaskamp, Danique R M
;
Rump, Patrick
;
Callenbach, Petra M C
...
https://research.rug.nl/en/publications/a28e0fd7-8054-4456-8f86-38f8bf99b424. , 2021
Link:
https://hdl.handle.net/1..
?
9
Changes in empowerment and anxiety of patients and parents ..:
Vlaskamp, Danique R M
;
Rump, Patrick
;
Callenbach, Petra M C
...
1090-3798. , 2021
Link:
https://dspace.library.u..
?
10
Quantitative facial phenotyping for Koolen-de Vries and 22q..:
Dingemans, Alexander J M
;
Stremmelaar, Diante E
;
van der Donk, Roos
...
https://research.rug.nl/en/publications/711d4da1-cd5b-4c12-bb11-d649e5fbcf5f. , 2021
Link:
https://hdl.handle.net/1..
?
11
Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:
Chowdhury, Fuad
;
Wang, Lei
;
Al-Raqad, Mohammed
...
https://research.rug.nl/en/publications/8b645f00-a2db-4806-8c67-fe341888ac0d. , 2021
Link:
https://hdl.handle.net/1..
?
12
Germline AGO2 mutations impair RNA interference and human n..:
Lessel, Davor
;
Zeitler, Daniela M
;
Reijnders, Margot R F
...
https://research.rug.nl/en/publications/83f39819-c603-41b1-aafb-983f211f5c5e. , 2020
Link:
https://hdl.handle.net/1..
?
13
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Reco..:
Muir, Alison M
;
Cohen, Jennifer L
;
Sheppard, Sarah E
...
https://research.rug.nl/en/publications/741ac0be-6d46-4f4e-a1c7-687166d5d5d5. , 2020
Link:
https://hdl.handle.net/1..
?
14
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Reco..:
Muir, Alison M
;
Cohen, Jennifer L
;
Sheppard, Sarah E
...
https://portal.findresearcher.sdu.dk/da/publications/54f38658-6b11-441d-b45a-08e35077d662. , 2020
Link:
https://portal.findresea..
?
15
Widening of the genetic and clinical spectrum of Lamb-Shaff..:
Zawerton, Ash
;
Mignot, Cyril
;
Sigafoos, Ashley
...
https://research.rug.nl/en/publications/ae67cc8c-ab35-4574-8daf-9e35883ae39f. , 2020
Link:
https://hdl.handle.net/1..
1-15