Medico-Salsench, Eva
43  Ergebnisse:
Personensuche X
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AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
AMFR consortium , Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , A T , Metcalfe , K , Jackson , A , Banka , S , De Simone , L , Schwaede , A , Kuntz , N , Palculict , T B , Abbas , S , Umair , M , AlMuhaizea , M , Colak , D , AlQudairy , H , Alsagob , M , Pereira , C , Trunzo , R , Karageorgou , V , Bertoli-Avella , A M , Bauer , P , Bouman , A , Hoefsloot , L H , van Ham , T J , Issa , M , Zaki , M S , Gleeson , J G , Willemsen , R , Kaya , N , Arold , S T & Maroofian , R 2023 , ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ' , Acta Neuropathologica , vol. 146 , no. 2 , pp. 3....  , 2023
 
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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
 
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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
 
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Spliceosome Mutations in Uveal Melanoma:

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