User menu

Accès à distance ? S'identifier sur le proxy UCLouvain

Search

Displaying 4 results.
    • Journal article
    Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
    Lardelli, Rea M Schaffer, Ashleigh E Eggens, Veerle R C Zaki, Maha S Grainger, Stephanie Sathe, Shashank Van Nostrand, Eric L Schlachetzki, Zinayida Rosti, Basak Akizu, Naiara Scott, Eric Silhavy, Jennifer L Heckman, Laura Dean Rosti, Rasim Ozgur Dikoglu, Esra Gregor, Anne Guemez-Gamboa, Alicia Musaev, Damir Mande, Rohit Widjaja, Ari Shaw, Tim L Markmiller, Sebastian Marin-Valencia, Isaac Davies, Justin H de Meirleir, Linda Kayserili, Hulya Altunoglu, Umut Freckmann, Mary Louise Warwick, Linda Chitayat, David Blaser, Susan Çağlayan, Ahmet Okay Bilguvar, Kaya Per, Huseyin Fagerberg, Christina Christesen, Henrik T Kibaek, Maria Aldinger, Kimberly A Manchester, David Matsumoto, Naomichi Muramatsu, Kazuhiro Saitsu, Hirotomo Shiina, Masaaki Ogata, Kazuhiro Foulds, Nicola Dobyns, William B Chi, Neil C Traver, David Spaccini, Luigina Bova, Stefania Maria Gabriel, Stacey B Gunel, Murat Valente, Enza Maria Nassogne, Marie-Cécile[UCL] Bennett, Eric J Yeo, Gene W Baas, Frank Lykke-Andersen, Jens Gleeson, Joseph G (2017) Nature Genetics — Vol. 49, no. 3, p. 457-464 (2017)
    • Journal article
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.
    Kölker, Stefan Valayannopoulos, Vassili Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Boy, S P Nikolas Rasmussen, Marlene Bøgehus Burgard, Peter Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly Cortès I Saladelafont, Elisenda Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Furlan, Francesca Gleich, Florian González, Maria Julieta Gradowska, Wanda Grünewald, Stephanie Honzik, Tomas Hörster, Friederike Ioannou, Hariklea Jalan, Anil Häberle, Johannes Haege, Gisela Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris Murphy, Elaine de Baulny, Hélène Ogier Ortez, Carlos Pedrón, Consuelo C Pintos-Morell, Guillem Pena-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne[UCL] Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Lund, Allan M Garcia-Cazorla, Angeles Garcia Cazorla, Angeles (2015) Journal of Inherited Metabolic Disease — Vol. 38, p. 1059-1074 (2015)
    • Journal article
    Multiple phenotypes in phosphoglucomutase 1 deficiency.
    Tegtmeyer, Laura C Rust, Stephan van Scherpenzeel, Monique Ng, Bobby G Losfeld, Marie-Estelle Timal, Sharita Raymond, Kimiyo He, Ping Ichikawa, Mie Veltman, Joris Huijben, Karin Shin, Yoon S Sharma, Vandana Adamowicz, Maciej Lammens, Martin Reunert, Janine Witten, Anika Schrapers, Esther Matthijs, Gert Jaeken, Jaak Rymen, Daisy Stojkovic, Tanya Laforêt, Pascal Petit, François Aumaître, Olivier Czarnowska, Elzbieta Piraud, Monique Podskarbi, Teodor Stanley, Charles A Matalon, Reuben Burda, Patricie Seyyedi, Soraya Debus, Volker Socha, Piotr Sykut-Cegielska, Jolanta van Spronsen, Francjan de Meirleir, Linda Vajro, Pietro DeClue, Terry Ficicioglu, Can Wada, Yoshinao Wevers, Ron A Vanderschaeghe, Dieter Callewaert, Nico Fingerhut, Ralph Van Schaftingen, Emile[UCL] Freeze, Hudson H Morava, Eva Lefeber, Dirk J Marquardt, Thorsten (2014) New England Journal of Medicine — Vol. 370, no.6, p. 533-42 (2014)
    • Journal article
    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
    Kölker, Stefan Garcia-Cazorla, Angeles Cazorla, Angeles Garcia Valayannopoulos, Vassili Lund, Allan M Burlina, Alberto B Sykut-Cegielska, Jolanta Wijburg, Frits A Teles, Elisa Leão Zeman, Jiri Dionisi-Vici, Carlo Barić, Ivo Karall, Daniela Augoustides-Savvopoulou, Persephone Aksglaede, Lise Arnoux, Jean-Baptiste Avram, Paula Baumgartner, Matthias R Blasco-Alonso, Javier Chabrol, Brigitte Chakrapani, Anupam Chapman, Kimberly I Saladelafont, Elisenda Cortès Couce, Maria L de Meirleir, Linda Dobbelaere, Dries Dvorakova, Veronika Furlan, Francesca Gleich, Florian Gradowska, Wanda Grünewald, Stephanie Jalan, Anil Häberle, Johannes Haege, Gisela Lachmann, Robin Laemmle, Alexander Langereis, Eveline de Lonlay, Pascale Martinelli, Diego Matsumoto, Shirou Mühlhausen, Chris de Baulny, Hélène Ogier Ortez, Carlos Peña-Quintana, Luis Ramadža, Danijela Petković Rodrigues, Esmeralda Scholl-Bürgi, Sabine Sokal, Etienne[UCL] Staufner, Christian Summar, Marshall L Thompson, Nicholas Vara, Roshni Pinera, Inmaculada Vives Walter, John H Williams, Monique Burgard, Peter (2015) Journal of Inherited Metabolic Disease — Vol. 38, p. 1041-1057 (2015)