檢索結果 - Peter van Hasselt

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  1. 1
    Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III

    Early Umbilical Cord Blood-Derived Stem Cell Transplantation Does Not Prevent Neurological Deterioration in Mucopolysaccharidosis Type III 由 Lindsey Welling, Jan Pieter Marchal, Peter van Hasselt, Ans T. van der Ploeg, Frits A. Wijburg, Jaap Jan Boelens

    出版 2014
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  2. 2
    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

    Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance 由 Irena Muffels, Hans R. Waterham, Giuseppina D’Alessandro, Guido Zagnoli-Vieira, Michael Sacher, Dirk J. Lefeber, Celine Van der Vinne, Chaim M. Roifman, Koen L.I. van Gassen, Holger Rehmann, Désirée Y. van Haaften–Visser, Edward E. S. Nieuwenhuis, Stephen P. Jackson, Sabine A. Fuchs, Femke van Wijk, Peter van Hasselt

    出版 2025
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  3. 3
    Evolutionary conservation of the fidelity of transcription

    Evolutionary conservation of the fidelity of transcription 由 Claire Chung, Bert M. Verheijen, Zoe Navapanich, Eric McGann, Sarah J. Shemtov, Guan-Ju Lai, Payal Arora, Atif Towheed, Suraiya Haroon, Ágnes Holczbauer, Sharon Chang, Zarko Manojlovic, Stephen Simpson, W. Kelley Thomas, Craig D. Kaplan, Peter van Hasselt, H. T. Marc Timmers, Dorothy A. Erie, Lin Chen, Jean-François Goût, Marc Vermulst

    出版 2023
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  4. 4
    Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

    Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management 由 Lucia Laugwitz, Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard, Annette Bley, Audrey Boyer, Valeria Calbi, Hanka Dekker, Florian Eichler, Erik A. Eklund, Francesca Fumagalli, Francesco Gavazzi, Sabine Grønborg, Peter van Hasselt, Mirjam Langeveld, Caroline A. Lindemans, Fanny Mochel, Andreas Øberg, Dipak Ram, Elise F. Saunier-Vivar, Lüdger Schöls, Michael S. Scholz, Caroline Sevin, Ayelet Zerem, Nicole I. Wolf, Samuel Groeschel

    出版 2024
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  5. 5
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies 由 Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    出版 2016
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  6. 6
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies 由 Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    出版 2016
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