E-LIB Suche - Ergebnisse für: Rump, Patrick

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..