Browsing by Author Weckhuysen, Sarah
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 26-Sep-2015 | Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood-a study of 155 patients. | Panagiotakaki, Eleni; Grandis, Elisa de; Stagnaro, Michela; Heinzen, Erin L.; Fons, Carmen; Sisodiya, Sanjay; Vries, Boukje de; Goubau, Christophe; Weckhuysen, Sarah; Kemlink, David; Scheffer, Ingrid; Lesca, Gaetan; Rabilloud, Muriel; Klich, Amna; Ramírez Camacho, Alia; Ulate-Campos, Adriana; Campistol Plana, Jaume; Giannotta, Melania; Moutard, Marie L.; Doummar, Diane; Hubsch-Bonneaud, Cecile; Jaffer, Fatima; Cross, J. Helen; Gurrieri, Fiorella; Tiziano, Danilo; Nevsimalova, Sona; Nicole, Sophie; Neville, Brian; Maagdenberg, Arn M.J.M. van den; Mikati, Mohamad; Goldstein, David B.; Vavassori, Rosaria; Arzimanoglou, Alexis; Italian IBAHC Consortium; French AHC Consortium; International AHC Consortium |
| 3-Jan-2018 | Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia | Guissart, Claire; Latypova, Xenia; Rollier, Paul; Khan, Tahir N.; Stamberger, Hannah; McWalter, Kirsty; Cho, Megan T.; Kjaergaard, Susanne; Weckhuysen, Sarah; Lesca, Gaetan; Besnard, Thomas; Õunap, Katrin; Schema, Lynn; Chiocchetti, Andreas G.; Mcdonald, Marie; Bellescize, Julitta de; Vincent, Marie; Van Esch, Hilde; Sattler, Shannon; Forghani, Irman; Thiffault, Isabelle; Freitag, Christine M.; Barbouth, Deborah Sara; Cadieux-Dion, Maxime; Willaert, Rebecca; Guillen Sacoto, Maria J.; Safina, Nicole P.; Dubourg, Christèle; Grote, Lauren; Carre, Wilfrid; Saunders, Carol; Pajusalu, Sander; Farrow, Emily; Boland, Anne; Karlowicz, Danielle Hays; Deleuze, Jean-François; Wojcik, Monica H.; Pressman, Rena; Isidor, Bertrand; Vogels, Annick; Van Paesschen, Wim; Al-Gazali, Lihadh; Mohamed Al Shamsi, Aisha; Claustres, Mireille; Pujol Onofre, Aurora; Sanders, Stephan; Rivier, François; Leboucq, Nicolas; Cogne, Benjamin; Sasorith, Souphatta; Sanlaville, Damien; Retterer, Kyle; Odent, Sylvie; Katsanis, Nicholas; Bézieau, Stéphane; Koenig, Michel; Davis, Erica E.; Pasquier, Laurent; Küry, Sébastien |