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Material Type: Artigo
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Prime editing for functional repair in patient-derived disease modelsSchene, Imre F ; Joore, Indi P ; Oka, Rurika ; Mokry, Michal ; van Vugt, Anke H M ; van Boxtel, Ruben ; van der Doef, Hubert P J ; van der Laan, Luc J W ; Verstegen, Monique M A ; van Hasselt, Peter M ; Nieuwenhuis, Edward E S ; Fuchs, Sabine ANature communications, 2020-10, Vol.11 (1), p.5352-8, Article 5352 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Pathophysiology of propionic and methylmalonic acidemias. Part 1: ComplicationsHaijes, Hanneke A. ; Jans, Judith J. M. ; Tas, Simone Y. ; Verhoeven‐Duif, Nanda M. ; Hasselt, Peter M.Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.730-744 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Glucose transporter type 1 deficiency syndrome and the ketogenic dietSchwantje, Marit ; Verhagen, Lilly M. ; Hasselt, Peter M. ; Fuchs, Sabine A.Journal of inherited metabolic disease, 2020-03, Vol.43 (2), p.216-222 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Aminoacyl-tRNA synthetase deficiencies in search of common themesFuchs, Sabine A ; Schene, Imre F ; Kok, Gautam ; Jansen, Jurriaan M ; Nikkels, Peter G J ; van Gassen, Koen L I ; Terheggen-Lagro, Suzanne W J ; van der Crabben, Saskia N ; Hoeks, Sanne E ; Niers, Laetitia E M ; Wolf, Nicole I ; de Vries, Maaike C ; Koolen, David A ; Houwen, Roderick H J ; Mulder, Margot F ; van Hasselt, Peter MGenetics in medicine, 2019-02, Vol.21 (2), p.319-330 [Periódico revisado por pares]United States: Nature Publishing Group USSem texto completo |
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Material Type: Artigo
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Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorderLipstein, Noa ; Verhoeven-Duif, Nanda M ; Michelassi, Francesco E ; Calloway, Nathaniel ; van Hasselt, Peter M ; Pienkowska, Katarzyna ; van Haaften, Gijs ; van Haelst, Mieke M ; van Empelen, Ron ; Cuppen, Inge ; van Teeseling, Heleen C ; Evelein, Annemieke M V ; Vorstman, Jacob A ; Thoms, Sven ; Jahn, Olaf ; Duran, Karen J ; Monroe, Glen R ; Ryan, Timothy A ; Taschenberger, Holger ; Dittman, Jeremy S ; Rhee, Jeong-Seop ; Visser, Gepke ; Jans, Judith J ; Brose, NilsThe Journal of clinical investigation, 2017-03, Vol.127 (3), p.1005-1018 [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategiesHaijes, Hanneke A. ; Hasselt, Peter M. ; Jans, Judith J. M. ; Verhoeven‐Duif, Nanda M.Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.745-761 [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivationBhat, Shreyas ; Rousseau, Justine ; Michaud, Coralie ; Lourenço, Charles Marques ; Stoler, Joan M. ; Louie, Raymond J. ; Clarkson, Lola K. ; Lichty, Angie ; Koboldt, Daniel C. ; Reshmi, Shalini C. ; Sisodiya, Sanjay M. ; Hoytema van Konijnenburg, Eva M.M. ; Koop, Klaas ; van Hasselt, Peter M. ; Démurger, Florence ; Dubourg, Christèle ; Sullivan, Bonnie R. ; Hughes, Susan S. ; Thiffault, Isabelle ; Tremblay, Elisabeth Simard ; Accogli, Andrea ; Srour, Myriam ; Blunck, Rikard ; Campeau, Philippe M.American journal of human genetics, 2024-04, Vol.111 (4), p.761-777 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Prevention of Vitamin K Deficiency Bleeding in Breastfed Infants: Lessons From the Dutch and Danish Biliary Atresia Registriesvan Hasselt, Peter M ; de Koning, Tom J ; Kvist, Nina ; de Vries, Elsemieke ; Lundin, Christina Rydahl ; Berger, Ruud ; Kimpen, Jan L. L ; Houwen, Roderick H. J ; Jorgensen, Marianne Horby ; Verkade, Henkjan J ; and Netherlands Study Group for Biliary Atresia RegistryPediatrics (Evanston), 2008-04, Vol.121 (4), p.e857-e863 [Periódico revisado por pares]United States: Am Acad PediatricsTexto completo disponível |
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Material Type: Artigo
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patientsMignot, Cyril ; McMahon, Aoife C ; Bar, Claire ; Campeau, Philippe M ; Davidson, Claire ; Buratti, Julien ; Nava, Caroline ; Jacquemont, Marie-Line ; Tallot, Marilyn ; Milh, Mathieu ; Edery, Patrick ; Marzin, Pauline ; Barcia, Giulia ; Barnerias, Christine ; Besmond, Claude ; Bienvenu, Thierry ; Bruel, Ange-Line ; Brunga, Ledia ; Ceulemans, Berten ; Coubes, Christine ; Cristancho, Ana G ; Cunningham, Fiona ; Dehouck, Marie-Bertille ; Donner, Elizabeth J ; Duban-Bedu, Bénédicte ; Dubourg, Christèle ; Gardella, Elena ; Gauthier, Julie ; Geneviève, David ; Gobin-Limballe, Stéphanie ; Goldberg, Ethan M ; Hagebeuk, Eveline ; Hamdan, Fadi F ; Hančárová, Miroslava ; Hubert, Laurence ; Ioos, Christine ; Ichikawa, Shoji ; Janssens, Sandra ; Journel, Hubert ; Kaminska, Anna ; Keren, Boris ; Koopmans, Marije ; Lacoste, Caroline ; Laššuthová, Petra ; Lederer, Damien ; Lehalle, Daphné ; Marjanovic, Dragan ; Métreau, Julia ; Michaud, Jacques L ; Miller, Kathryn ; Minassian, Berge A ; Morales, Joannella ; Moutard, Marie-Laure ; Munnich, Arnold ; Ortiz-Gonzalez, Xilma R ; Pinard, Jean-Marc ; Prchalová, Darina ; Putoux, Audrey ; Quelin, Chloé ; Rosen, Alyssa R ; Roume, Joelle ; Rossignol, Elsa ; Simon, Marleen E H ; Smol, Thomas ; Shur, Natasha ; Shelihan, Ivan ; Štěrbová, Katalin ; Vyhnálková, Emílie ; Vilain, Catheline ; Soblet, Julie ; Smits, Guillaume ; Yang, Samuel P ; van der Smagt, Jasper J ; van Hasselt, Peter M ; van Kempen, Marjan ; Weckhuysen, Sarah ; Helbig, Ingo ; Villard, Laurent ; Héron, Delphine ; Koeleman, Bobby ; Møller, Rikke S ; Lesca, Gaetan ; Helbig, Katherine L ; Nabbout, Rima ; Verbeek, Nienke E ; Depienne, ChristelGenetics in Medicine, 2019-04, Vol.21 (4), p.837-849 [Periódico revisado por pares]United States: Elsevier LimitedSem texto completo |
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Material Type: Artigo
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Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSRumping, Lynne ; Jans, Judith J ; van Hasselt, Peter M ; van Kuilenburg, André B.P ; Usdin, Karen ; van Karnebeek, Clara D.MThe New England journal of medicine, 2019-09, Vol.381 (12), p.1185-1185 [Periódico revisado por pares]United States: Massachusetts Medical SocietyTexto completo disponível |