Article révisé par les pairs

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DI-fusion

  • Erratum: COG5-CDG: Expanding the clinical spectrum (Orphanet Journal of Rare Diseases (2013) 8 (120))
    par Rymen, Daisy , Keldermans, Liesbeth , Race, Valérie , Matthijs, Gert , Régal, Luc , Jaeken, Jaak , Deconinck, Nicolas , Dionisi-Vici, Carlo , Fung, Cheuk-Wing , Sturiale, Luisa , Rosnoblet, Claire , Foulquier, Francois
    Publication 2013
  • Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants.
    par Rossi, Alessandra , Lin, Susan X N , Absalom, Nathan NL , Ortiz-De la Rosa, Sebastian , Liao, Vivian VWY , Mohammadi, Nazanin NA , Viswanathan, Sindhu , Stödberg, Tommy , Danieli, Alberto , Bonanni, Paolo , Aeby, Alec , Orsini, Alessandro , Bonuccelli, Alice , Rüegger, Andrea , Giraldez, Beatriz BG , Isidor, Bertrand , Stüve, Burkhard , Marini, Carla , Cesaroni, Elisabetta , Fenger, Christina D , Philippe, Christophe , Meunier, Colombine , Lederer, Damien , Moortgat, Stephanie , Spinelli, Egidio , Fallica, Elisa , Zeiner, Fiona , Bauman, Matthias , Licchetta, Laura , Bisulli, Francesca , Operto, Francesca FF , Benkel-Herrenbrueck, Ira , Gorman, Kathleen KM , Johannesen, Katrine KM , Platzer, Konrad , Schnabel, Franziska , Lagae, Lieven , Laufs, Mirjam , Zordania, Riina , Malone, Stephen , Messana, Tullio , Werckx, Wendy , Jonsson, Charlotta , Afawi, Zaid , Foiadelli, Thomas , Halleb, Yosra , Stoeva, Radka , Jennesson-Lyver, Mélanie , Lesca, Gaetan , Guerrini, Renzo , Berkovic, Samuel F , Scheffer, Ingrid E , Chebib, Mary , Gardella, Elena , Møller, Rikke Steensbjerre , Rubboli, Guido , Ahring, Philip PK
    Publication 2025-07
  • Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.
    par Neuens, Sebastian , Soblet, Julie , Penninckx, Aurelie , Detry, Claire , Badoer, Cindy , Desmyter, Laurence , Peyrassol, Xavier , Wilkin, Françoise , Busson, Adeline , Bruneau, Marie , Grenet, Marie-Laure , Le Morillon, Alice , Aeby, Alec , Deconinck, Nicolas , Prigogine, Cynthia , Monier, Anne , Juvené, Elodie , Balfroid, Tom , Van Hecke, Audrey , Christiaens, Florence , Depondt, Chantal , Brachet, Cécile , Delvenne, Véronique , Lufin, Nicolas , Bouysran, Youssef , Kammoun, Mohamed , Daneels, Dorien , Caljon, Ben , Croes, Didier , Olsen, Catharina , Van Dooren, Sonia , Migeotte, Isabelle , Vandernoot, Isabelle , Marangoni, Martina , Coppens, Sandra , Smits, Guillaume , Vilain, Catheline
    Publication 2025-06-01
  • Drug Repurposing Trends: Strategic Approaches to Unlocking New Therapeutics
    par Akodad, Sanaé , Niu, Xixian , Secades Casino, Berta , Stevens, Hilde
    Publication 2026-01-04
  • A Simple Risk Index Predicts Endovascular Treatment Outcomes in Acute Ischemic Stroke: Prognostic Value of SPAN-100.
    par Ligot, Noemie , Dagonnier, Marie , Lubicz, Boris , Brassart, Nicolas , Naeije, Gilles
    Publication 2025-09-04