Hoefsloot, Lies H
86  Ergebnisse:
Personensuche X
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2

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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6

Early onset X-linked female limited high myopia in three mu..:

van Mazijk, Ralph ; Haarman, Annechien E.G ; Hoefsloot, Lies H...
van Mazijk , R , Haarman , A E G , Hoefsloot , L H , Polling , J R , van Tienhoven , M , Klaver , C C W , Verhoeven , V J M , Loudon , S E , Thiadens , A A H J & Kievit , A J A 2022 , ' Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene ' , Human Mutation , vol. 43 , no. 3 , pp. 380-388 . https://doi.org/10.1002/humu.24327.  , 2022
 
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11

Novel GAA Variants and Mosaicism in Pompe Disease Identifie..:

in't Groen, Stijn L. M ; de Faria, Douglas O. S ; Iuliano, Alessandro...
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8.  , 2020
 
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15

Segmental and total uniparental isodisomy (UPiD) as a disea..:

Labrijn-Marks, Ineke ; Somers-Bolman, Galhana M ; Groen, Stijn L. M. In't...
https://research.rug.nl/en/publications/20c5064d-a18a-4ff0-9295-28bc28b93f19.  , 2019
 
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