Guidelines for diagnostic next-generation sequencing von Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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Challenges in molecular diagnosis of X-linked Intellectual disability von De Luca, Chiara, Race, Valérie, Keldermans, Liesbeth, Bauters, Marijke, Van Esch, Hilde

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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype von Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, Matthijs, Gert

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Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature von Biard, Jean-Marc, Steenhaut, Patricia, Bernard, Pierre, Race, Valérie, Sznajer, Yves

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TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation von Foulquier, François, Amyere, Mustapha, Jaeken, Jaak, Zeevaert, Renate, Schollen, Els, Race, Valérie, Bammens, Riet, Morelle, Willy, Rosnoblet, Claire, Legrand, Dominique, Demaegd, Didier, Buist, Neil, Cheillan, David, Guffon, Nathalie, Morsomme, Pierre, Annaert, Willem, Freeze, Hudson H., Van Schaftingen, Emile, Vikkula, Miikka, Matthijs, Gert

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An ALS case with 38 (G4C2)-repeats in the C9orf72 gene shows TDP-43 and sparse dipeptide repeat protein pathology von Dedeene, Lieselot, Van Schoor, Evelien, Race, Valérie, Moisse, Matthieu, Vandenberghe, Rik, Poesen, Koen, Van Damme, Philip, Thal, Dietmar Rudolf

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DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy von Barone, Rita, Aiello, Chiara, Race, Valérie, Morava, Eva, Foulquier, Francois, Riemersma, Moniek, Passarelli, Chiara, Concolino, Daniela, Carella, Massimo, Santorelli, Filippo, Vleugels, Wendy, Mercuri, Eugenio, Garozzo, Domenico, Sturiale, Luisa, Messina, Sonia, Jaeken, Jaak, Fiumara, Agata, Wevers, Ron A., Bertini, Enrico, Matthijs, Gert, Lefeber, Dirk J.

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Guidelines for diagnostic next-generation sequencing von Matthijs, Gert, Souche, Erika, Alders, Mariëlle, Corveleyn, Anniek, Eck, Sebastian, Feenstra, Ilse, Race, Valérie, Sistermans, Erik, Sturm, Marc, Weiss, Marjan, Yntema, Helger, Bakker, Egbert, Scheffer, Hans, Bauer, Peter

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MAN1B1 deficiency: an unexpected CDG-II von Rymen, Daisy, Peanne, Romain, Millón, María B, Race, Valérie, Sturiale, Luisa, Garozzo, Domenico, Mills, Philippa, Clayton, Peter, Asteggiano, Carla G, Quelhas, Dulce, Cansu, Ali, Martins, Esmeralda, Nassogne, Marie-Cécile, Gonçalves-Rocha, Miguel, Topaloglu, Haluk, Jaeken, Jaak, Foulquier, François, Matthijs, Gert

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Frequency of C9orf72 repeat expansions in amyotrophic lateral sclerosis: a Belgian cohort study von Debray, Sarah, Race, Valérie, Crabbé, Veerle, Herdewyn, Sarah, Matthijs, Gert, Goris, An, Dubois, Bénédicte, Thijs, Vincent, Robberecht, Wim, Van Damme, Philip

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Correlation between the Lactate Dehydrogenase Levels with Laboratory Variables in the Clinical Severity of Sickle Cell Anemia in Congolese Patients von Mikobi, Tite Minga, Lukusa Tshilobo, Prosper, Aloni, Michel Ntetani, Mvumbi Lelo, Georges, Akilimali, Pierre Zalagile, Muyembe-Tamfum, Jean Jacques, Race, Valérie, Matthijs, Gert, Mbuyi Mwamba, Jean Marie

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Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy von Zhao, Hui, Race, Valérie, Matthijs, Gert, De Jonghe, Peter, Robberecht, Wim, Lambrechts, Diether, Van Damme, Philip

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Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience von Quelhas, Dulce, Martins, Esmeralda, Azevedo, Luísa, Bandeira, Anabela, Diogo, Luísa, Garcia, Paula, Sequeira, Sílvia, Ferreira, Ana Cristina, Teles, Elisa Leão, Rodrigues, Esmeralda, Fortuna, Ana Maria, Mendonça, Carla, Fernandes, Helena Cabral, Medeira, Ana, Gaspar, Ana, Janeiro, Patrícia, Oliveira, Anabela, Laranjeira, Francisco, Ribeiro, Isaura, Souche, Erica, Race, Valérie, Keldermans, Liesbeth, Matthijs, Gert, Jaeken, Jaak

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RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement von Van Daele, Sien H., Moisse, Matthieu, Race, Valérie, Van Eesbeeck, Amélie, Keldermans, Liesbeth, Vermeer, Sascha, Van Esch, Hilde, Claeys, Kristl G., Van Damme, Philip

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Parkinson's Disease with a Homozygous PARK7 Mutation and Clinical Onset at the Age of 5 Years von Delva, Aline, Race, Valérie, Boon, Elizabet, Van Laere, Koen, Vandenberghe, Wim

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Usefulness of fragile X checklist and CGG distribution in specialized institutions in Kinshasa, DR Congo von Lumaka, Aimé, Lubala, Toni Kasole, Race, Valérie, Peeters, Hilde, Lukusa, Prosper, Devriendt, Koenraad

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Abnormal cartilage development and altered N-glycosylation in Tmem165-deficient zebrafish mirrors the phenotypes associated with TMEM165-CDG von Bammens, Riet, Mehta, Nickita, Race, Valérie, Foulquier, François, Jaeken, Jaak, Tiemeyer, Michael, Steet, Richard, Matthijs, Gert, Flanagan-Steet, Heather

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COG5-CDG: expanding the clinical spectrum von Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Régal, Luc, Deconinck, Nicolas, Dionisi-Vici, Carlo, Fung, Cheuk-Wing, Sturiale, Luisa, Rosnoblet, Claire, Foulquier, François, Matthijs, Gert, Jaeken, Jaak

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Whole-genome sequencing reveals a coding non-pathogenic variant tagging a non-coding pathogenic hexanucleotide repeat expansion in C9orf72 as cause of amyotrophic lateral sclerosis von HERDEWYN, Sarah, HUI ZHAO, ROBBERECHT, Wim, LAMBRECHTS, Diether, VAN DAMME, Philip, MOISSE, Matthieu, RACE, Valérie, MATTHIJS, Gert, REUMERS, Joke, KUSTERS, Benno, SCHELHAAS, Helenius J, DEN BERG, Leonard H. Van, GORIS, An

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SLC37A4‐CDG: Second patient von Wilson, Matthew P., Quelhas, Dulce, Leão‐Teles, Elisa, Sturiale, Luisa, Rymen, Daisy, Keldermans, Liesbeth, Race, Valérie, Souche, Erika, Rodrigues, Esmeralda, Campos, Teresa, Van Schaftingen, Emile, Foulquier, François, Garozzo, Domenico, Matthijs, Gert, Jaeken, Jaak

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