Not logged in Absence of the dolichol synthesis gene DHRSX leads to N-glycosylation defects in Lec5 and Lec9 Chinese hamster ovary cells Kentache, Takfarinas; Althoff, Charlotte R.; Caligiore, Francesco; Souche, Erika; Schulz, Celine; Graff, Julie; Pieters, Eline; Stanley, Pamela; Contessa, Joseph N.; Van Schaftingen, Emile; Matthijs, Gert; Foulquier, Francois; Bommer, Guido T.; Wilson, Matthew P. Share Save
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The normal phenotype of PMM1-deficient mice suggests that PMM1 is not essential for normal mouse development Cromphout, K.; Vleugels, W.; Heykants, L.; Schollen, E.; Keldermans, L.; Sciot, R.; D'Hooge, R.; De Deyn, P. P.; von Figura, K.; Hartmann, D.; Koerner, C.; Matthijs, G. Share Save
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Recommendations for whole genome sequencing in diagnostics for rare diseases Souche, Erika; Beltran, Sergi; Brosens, Erwin; Belmont, John W.; Fossum, Magdalena; Riess, Olaf; Gilissen, Christian; Ardeshirdavani, Amin; Houge, Gunnar; van Gijn, Marielle; Clayton-Smith, Jill; Synofzik, Matthis; de Leeuw, Nicole; Deans, Zandra C.; Dincer, Yasemin; Eck, Sebastian H.; van eer Crabben, Saskia; Balasubramanian, Meena; Graessner, Holm; Sturm, Marc; Firth, Helen; Ferlini, Alessandra; Nabbout, Rima; De Baere, Elfride; Liehr, Thomas; Macek, Milan; Matthijs, Gert; Scheffer, Hans; Bauer, Peter; Yntema, Helger G.; Weiss, Marjan M. Share Save
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CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking Wilson, Matthew P.; Durin, Zoe; Unal, Ozlem; Ng, Bobby G.; Marrecau, Thomas; Keldermans, Liesbeth; Souche, Erika; Rymen, Daisy; Gunduz, Mehmet; Kose, Guluen; Sturiale, Luisa; Garozzo, Domenico; Freeze, Hudson H.; Jaeken, Jaak; Foulquier, Francois; Matthijs, Gert Share Save
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Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Wilson, Matthew P.; Garanto, Alejandro; Vairo, Filippo Pinto E.; Ng, Bobby G.; Ranatunga, Wasantha K.; Ventouratou, Marina; Baerenfaenger, Melissa; Huijben, Karin; Thiel, Christian; Ashikov, Angel; Keldermans, Liesbeth; Souche, Erika; Vuillaumier-Barrot, Sandrine; Dupre, Thierry; Michelakakis, Helen; Fiumara, Agata; Pitt, James; White, Susan M.; Lim, Sze Chern; Gallacher, Lyndon; Peters, Heidi; Rymen, Daisy; Witters, Peter; Ribes, Antonia; Morales-Romero, Blai; Rodriguez-Palmero, Agusti; Ballhausen, Diana; de Lonlay, Pascale; Barone, Rita; Janssen, Mirian C. H.; Jaeken, Jaak; Freeze, Hudson H.; Matthijs, Gert; Morava, Eva; Lefeber, Dirk J. Share Save
Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience Quelhas, Dulce; Martins, Esmeralda; Azevedo, Luisa; Bandeira, Anabela; Diogo, Luisa; Garcia, Paula; Sequeira, Silvia; Ferreira, Ana Cristina; Teles, Elisa Leao; Rodrigues, Esmeralda; Fortuna, Ana Maria; Mendonca, Carla; Fernandes, Helena Cabral; Medeira, Ana; Gaspar, Ana; Janeiro, Patricia; Oliveira, Anabela; Laranjeira, Francisco; Ribeiro, Isaura; Souche, Erica; Race, Valerie; Keldermans, Liesbeth; Matthijs, Gert; Jaeken, Jaak Share Save
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Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network Heard, Jean-Michel; Vrinten, Charlotte; Schlander, Michael; Bellettato, Cinzia Maria; van Lingen, Corine; Scarpa, Maurizio; Matthijs, Gert; Nassogne, Marie-Cecile; Debray, Francois-Guillaume; Roland, Dominique; Chamova, Teodora; Kozich, Viktor; Pavel, Jesina; Zenker, Martin; Lampe, Christina; Das, Anihb Martin; Hennermann, Julia; Koelker, Stefan; Weinhold, Natalie; Mohnike, Klaus; Gruenert, Sarah; Lund, Allan Meldgaard; Morales-Conejo, Montserrat; del Toro-Riera, Mireia; Aldamiz-Echevarria, Luis; Garcia-Silva, Maria-Teresa; Schiff, Manuel; Gouya, Laurent; Labrune, Philippe; de Lonlay, Pascale; Belmatoug, Nadia; Germain, Dominique P.; Cano, Aline; Dobbelaere, Dries; Jones, Simon; Dawson, Charlotte; Deegan, Patrick; Santra, Saikat; Vijay, Suresh; Petkovic Ramadza, Danijela; Baric, Ivo; Zigman, Tamara; Pflieger, Gyoergy; Szakszon, Katalin; Kaposta, Rita; Gasperini, Serena; Burlina, Alberto; Parenti, Giancarlo; Strisciuglio, Pietro; Ceccarini, Giovanni; Federico, Antonio; Simonati, Alessandro; Tumiene, Birute; Huidekoper, Hidde; van Spronsen, Francian; Bosch, Annet; Rubio-Gozalbo, Maria-Estela; Visser, Gepke; Tangeraas, Trine; Aarsand, Aasne; Kiec-Wilk, Beata; Mendes Gaspar, Ana-Maria Simoes; Quelhas, Dulce; Leao-Teles, Elisa; Azevedo, Olga; Rodriges Silva, Esmeralda-Maria Ferreira; de Abreu Freire Diogo Matos, Luisa-Maria; Martins, Esmeralda; Lajic, Svetlana; Darin, Niklas; Groselj, Urh; Tansek, Mojca-Zerjav Share Save
Leveraging European infrastructures to access 1 million human genomes by 2022 (vol 20, pg 693, 2019) Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Beroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Soren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut, Ivo; Heringa, Jaap; Holub, Petr; Hooyberghs, Jef; Juty, Nick; Keane, Thomas M.; Korbel, Jan O.; Lappalainen, Ilkka; Leskosek, Brane; Matthijs, Gert; Mayrhofer, Michaela Th.; Metspalu, Andres; Navarro, Arcadi; Newhouse, Steven; Nyronen, Tommi; Page, Angela; Persson, Bengt; Palotie, Aarno; Parkinson, Helen; Rambla, Jordi; Salgado, David; Steinfelder, Erik; Swertz, Morris A.; Valencia, Alfonso; Varma, Susheel; Blomberg, Niklas; Scollen, Serena Share Save
Leveraging European infrastructures to access 1 million human genomes by 2022 Saunders, Gary; Baudis, Michael; Becker, Regina; Beltran, Sergi; Beroud, Christophe; Birney, Ewan; Brooksbank, Cath; Brunak, Soren; Van den Bulcke, Marc; Drysdale, Rachel; Capella-Gutierrez, Salvador; Flicek, Paul; Florindi, Francesco; Goodhand, Peter; Gut, Ivo; Heringa, Jaap; Holub, Petr; Hooyberghs, Jef; Juty, Nick; Keane, Thomas M.; Korbel, Jan O.; Lappalainen, Ilkka; Leskosek, Brane; Matthijs, Gert; Mayrhofer, Michaela Th.; Metspalu, Andres; Navarro, Arcadi; Newhouse, Steven; Nyronen, Tommi; Page, Angela; Persson, Bengt; Palotie, Aarno; Parkinson, Helen; Rambla, Jordi; Salgado, David; Steinfelder, Erik; Swertz, Morris A.; Valencia, Alfonso; Varma, Susheel; Blomberg, Niklas; Scollen, Serena Share Save
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