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Displaying 5 results.
    • Journal article
    Limitations of galactose therapy in phosphoglucomutase 1 deficiency.
    Nolting, Kristine Park, Julien H Tegtmeyer, Laura C Zühlsdorf, Andrea Grüneberg, Marianne Rust, Stephan Reunert, Janine Du Chesne, Ingrid Debus, Volker Schulze-Bahr, Eric Baxter, Robert C Wada, Yoshinao Thiel, Christian Van Schaftingen, Emile[UCL] Fingerhut, Ralph Marquardt, Thorsten (2017) Molecular genetics and metabolism reports — Vol. 13, no.-, p. 33-40 (2017)
    • Journal article
    Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients.
    Vergult, Sarah Hoogeboom, A Jeannette M Bijlsma, Emilia K Sante, Tom Klopocki, Eva De Wilde, Bram Jongmans, Marjolijn Thiel, Christian Verheij, Joke B G M Perez-Aytes, Antonio Van Esch, Hilde Kuechler, Alma Barge-Schaapveld, Daniela Q C M Sznajer, Yves[UCL] Mortier, Geert Menten, Björn (2013) Genetics in Medicine — Vol. 15, no.3, p. 195-202 (2013)
    • Journal article
    Congenital disorders of glycosylation (CDG): Quo vadis?
    Péanne, Romain de Lonlay, Pascale Foulquier, François Kornak, Uwe Lefeber, Dirk J Morava, Eva Pérez, Belén Seta, Nathalie Thiel, Christian Van Schaftingen, Emile[UCL] Matthijs, Gert Jaeken, Jaak (2018) European journal of medical genetics — Vol. 61, no.11, p. 643-663 (2018)
    • Journal article
    Making sense of missense variants in TTN-related congenital myopathies
    Rees, Martin Nikoopour, Roksana Fukuzawa, Atsushi Kho, Ay Lin Fernandez-Garcia, Miguel A. Wraige, Elizabeth Bodi, Istvan Deshpande, Charu Özdemir, Özkan Daimagüler, Hülya-Sevcan Pfuhl, Mark Holt, Mark Brandmeier, Birgit Grover, Sarah Fluss, Joël Longman, Cheryl Farrugia, Maria Elena Matthews, Emma Hanna, Michael Muntoni, Francesco Sarkozy, Anna Phadke, Rahul Quinlivan, Ros Oates, Emily C. Schröder, Rolf Thiel, Christian Reimann, Jens Voermans, Nicol Erasmus, Corrie Kamsteeg, Erik-Jan Konersman, Chaminda Grosmann, Carla McKee, Shane Tirupathi, Sandya Moore, Steven A. Wilichowski, Ekkehard Hobbiebrunken, Elke Dekomien, Gabriele Richard, Isabelle Van den Bergh, Peter[UCL] Domínguez-González, Cristina Cirak, Sebahattin Ferreiro, Ana Jungbluth, Heinz Gautel, Mathias (2021) Acta Neuropathologica — Vol. 141, no. 3, p. 431-453 (2021)
    • Journal article
    Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic Variants.
    Wortmann, Saskia B Feichtinger, Rene G Abela, Lucia van Gemert, Loes A Aubart, Mélodie Dufeu-Berat, Claire-Marine Boddaert, Nathalie de Coo, Rene Stühn, Lara Hebbink, Jasmijn Heinritz, Wolfram Hildebrandt, Julia Himmelreich, Nastassja Korenke, Christoph Lehman, Anna Leyland, Thomas Makowski, Christine Martinez Marin, Rafael Jenaro Marzin, Pauline Mühlhausen, Chris Rio, Marlène Rotig, Agnes Roux, Charles-Joris Schiff, Manuel Haack, Tobias B Syrbe, Steffen Zylicz, Stas A Thiel, Christian Veiga da Cunha, Maria[UCL] Van Schaftingen, Emile[UCL] Wagner, Matias Mayr, Johannes A Wevers, Ron A Boltshauser, Eugen Willemsen, Michel A (2024) Neurology. Genetics — Vol. 10, no.2, p. e200146 (2024)