Search Results - Alders, Marielle

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    DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7 by Laan, Liselot van der (Author) , Karimi, Karim (Author) , Rooney, Kathleen (Author) , Lauffer, Peter (Author) , McConkey, Haley (Author) , Caro, Pilar (Author) , Relator, Raissa (Author) , Levy, Michael A. (Author) , Bhai, Pratibha (Author) , Mignot, Cyril (Author) , Keren, Boris (Author) , Briuglia, Silvana (Author) , Sobering, Andrew K. (Author) , Li, Dong (Author) , Vissers, Lisenka E. L. M. (Author) , Dingemans, Alexander J. M. (Author) , Valenzuela, Irene (Author) , Verberne, Eline A. (Author) , Misra-Isrie, Mala (Author) , Zwijnenburg, Petra J. G. (Author) , Waisfisz, Quinten (Author) , Alders, Mariëlle (Author) , Sailer, Sebastian (Author) , Schaaf, Christian P. (Author) , Mannens, Marcel M. A. M. (Author) , Sadikovic, Bekim (Author) , van Haelst, Mieke M. (Author) , Henneman, Peter (Author) ,


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    De novo variants in the PABP domain of PABPC1 lead to developmental delay by Wegler, Meret (Author) , Jia, Xiangbin (Author) , Alders, Marielle (Author) , Bouman, Arjan (Author) , Chen, Jia (Author) , Duan, Xinyu (Author) , Lauzon, Julie L. (Author) , Mathijssen, Inge B. (Author) , Sticht, Heinrich (Author) , Syrbe, Steffen (Author) , Tan, Senwei (Author) , Guo, Hui (Author) , Abou Jamra, Rami (Author) ,


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    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia by Vaz, Frédéric (Author) , McDermott, John H. (Author) , Alders, Mariëlle (Author) , Wortmann, Saskia Brigitte (Author) , Kölker, Stefan (Author) , Pras-Raves, Mia L. (Author) , Vervaart, Martin A. T. (Author) , van Lenthe, Henk (Author) , Luyf, Angela C. M. (Author) , Elfrink, Hyung L. (Author) , Metcalfe, Kay (Author) , Cuvertino, Sara (Author) , Clayton, Peter E. (Author) , Yarwood, Rebecca (Author) , Lowe, Martin P. (Author) , Lovell, Simon (Author) , Rogers, Richard Curtis (Author) , van Kampen, Antoine H. C. (Author) , Ruiter, Jos P. N. (Author) , Wanders, Ronald J. A. (Author) , Ferdinandusse, Sacha (Author) , van Weeghel, Michel (Author) , Engelen, Marc (Author) , Banka, Siddharth (Author) ,


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