E-LIB Suche - Ergebnisse für: Medico-Salsench, Eva

1

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
Acta Neuropathologica. 146 (2023) 2 - p. 353-368 , 2023

Link: https://doi.org/10.1007/..

2

Identification of Early-Onset Metastasis in SF3B1 Mutated U..:

Drabarek, Wojtek ; van Riet, Job ; Nguyen, Josephine Q. N....
Cancers. 14 (2022) 3 - p. 846 , 2022

Link: https://doi.org/10.3390/..

3

The non-coding genome in genetic brain disorders: new targe..:

Medico-Salsench, Eva ; Karkala, Faidra ; Lanko, Kristina..
Essays in Biochemistry. 65 (2021) 4 - p. 671-683 , 2021

Link: https://doi.org/10.1042/..

4

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
github:barakatlab/AMFR_paper. , 2023

Link: http://hdl.handle.net/10..

5

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a. , 2023

Link: https://pure.eur.nl/en/p..

6

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://research.manchester.ac.uk/en/publications/c7bfa7d2-f2c4-49c4-8cd5-41c7ebbb2728. , 2023

Link: https://research.manches..

7

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
https://pure.eur.nl/en/publications/ebca86dc-197a-4176-9980-f0f2e6ce374a. , 2023

Link: https://pure.eur.nl/en/p..

8

Identification of Early-Onset Metastasis in SF3B1 Mutated U..:

Drabarek, Wojtek ; van Riet, Job ; Nguyen, Josephine Q.N...
Drabarek , W , van Riet , J , on behalf of the Rotterdam Ocular Melanoma Study Group , Nguyen , J Q N , Smit , K N , van Poppelen , N M , Jansen , R , Medico-Salsench , E , Vaarwater , J , Magielsen , F J , Brands , T , Eussen , B , van den Bosch , T P P , Verdijk , R M , Naus , N C , Paridaens , D , de Klein , A , Brosens , E , van de Werken , H J G & Kilic , E 2022 , ' Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma ' , Cancers , vol. 14 , no. 3 , 846 . https://doi.org/10.3390/cancers14030846. , 2022

Link: https://pure.eur.nl/en/p..

9

Identification of Early-Onset Metastasis in SF3B1 Mutated U..:

Drabarek, Wojtek ; van Riet, Job ; Nguyen, Josephine Q.N...
https://pure.eur.nl/en/publications/32baeb0c-7952-4984-8c5e-c7b6ad6817c3. , 2022

Link: https://pure.eur.nl/en/p..

10

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, Eva ; Maroofian, Reza ; Deng, Ruizhi...
Brain. 144 (2021) 10 - p. e85-e85 , 2021

Link: https://doi.org/10.1093/..

11

The non-coding genome in genetic brain disorders:New target..:

Medico-Salsench, Eva ; Karkala, Faidra ; Lanko, Kristina.
https://pure.eur.nl/en/publications/a4e9e0a2-eeff-47ff-94e6-19d7e9b4e86b. , 2021

Link: https://pure.eur.nl/en/p..

12

The non-coding genome in genetic brain disorders:New target..:

Medico-Salsench, Eva ; Karkala, Faidra ; Lanko, Kristina.
Medico-Salsench , E , Karkala , F , Lanko , K & Barakat , T S 2021 , ' The non-coding genome in genetic brain disorders : New targets for therapy? ' , Essays in Biochemistry , vol. 65 , no. 4 , pp. 671-683 . https://doi.org/10.1042/EBC20200121. , 2021

Link: https://pure.eur.nl/en/p..

13

Truncating mutations in YIF1B cause a progressive encephalo..:

AlMuhaizea, Mohammed ; AlMass, Rawan ; AlHargan, Aljouhra...
Acta Neuropathologica. 139 (2020) 4 - p. 791-794 , 2020

Link: https://doi.org/10.1007/..

14

Spliceosome Mutations in Uveal Melanoma:

Nguyen, Josephine Q.N. ; Drabarek, Wojtek ; Yavuzyigitoglu, Serdar...
International Journal of Molecular Sciences. 21 (2020) 24 - p. 9546 , 2020

Link: https://doi.org/10.3390/..

15

Comprehensive multi-omics integration identifies differenti..:

Yousefi, Soheil ; Deng, Ruizhi ; Lanko, Kristina...
Genome Medicine. 13 (2021) 1 - p. , 2021

Link: https://doi.org/10.1186/..