Muffels, Irena J.J.
12  Ergebnisse:
Personensuche X
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Liposome-encapsulated mannose-1-phosphate therapy improves ..:

Budhraja, Rohit ; Radenkovic, Silvia ; Jain, Anu...
Molecular Genetics and Metabolism.  142 (2024)  2 - p. 108487 , 2024
 
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Bi-allelic variants in NAE1 cause intellectual disability, ..:

Muffels, Irena J.J. ; Schene, Imre F. ; Rehmann, Holger...
The American Journal of Human Genetics.  110 (2023)  1 - p. 146-160 , 2023
 
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Bi-allelic variants in NAE1 cause intellectual disability, ..:

Muffels, Irena J.J ; Schene, Imre F ; Rehmann, Holger...
https://research.rug.nl/en/publications/7a4cfe00-a044-4183-8238-f4462c41ca55.  , 2023
 
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Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, Ilaria ; Lehalle, Daphné ; Nava, Caroline...
Parenti , I , Lehalle , D , Nava , C , Torti , E , Leitão , E , Person , R , Mizuguchi , T , Matsumoto , N , Kato , M , Nakamura , K , de Man , S A , Cope , H , Shashi , V , Undiagnosed Diseases Network , Friedman , J , Joset , P , Steindl , K , Rauch , A , Muffels , I , van Hasselt , P M , Petit , F , Smol , T , Le Guyader , G , Bilan , F , Sorlin , A , Vitobello , A , Philippe , C , van de Laar , I M B H , van Slegtenhorst , M A , Campeau , P M , Au , P Y B , Nakashima , M , Saitsu , H , Yamamoto , T , Nomura , Y , Louie , R J , Lyons , M J , Dobson , A , Plomp , A S , Motazacker , M M , Kaiser , F J , Timberlake , A T , Fuchs , S A , Depienne , C & Mignot , C 2021 , ' Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy ' , Human Genetics , vol. 140 , no. 7 , pp. 1109-1120 . https://doi.org/10.1007/s00439-021-02283-2.  , 2021
 
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