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| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-1995 | Sindrome de regresión caudal | Maldonado, A.; Pastor, Anna; Sorní, Antoni; Pastor Durán, Xavier; Palomeque, A. |
| 1-Jan-1993 | Picnodisóstosis | Querol, X.; Moreno Caballud, Ana; Corretger, J.M.; Fernández, C.; Pastor Durán, Xavier |
| 19-Sep-2014 | Bases moleculars de la Leucoeocefalopatia Megalencefàllca amb Quists subcorlicals. Utilització de models animals i cel·lulars | Sirisi Dolcet, Sònia |
| 9-Sep-2013 | Estudis bioquímics i funcionals de les proteïnes implicades en la Leucoencefalopatia Megalencefàlica amb Quists subcorticals | Capdevila Nortes, Xavier |
| 1-Jul-2013 | Pastillas para la neurofibromatosis | Aiger, Montserrat |
| 1-Jul-2012 | Further insights in trichothiodistrophy: a clinical, microscopic, and ultrastructural study of 20 cases and literature review | Ferrando, Juan; Mir-Bonafé, José; Cepeda-Valdés, Rodrigo; Domínguez Ximénez, Anna; Ocampo-Candiani, Jorge; García Veigas, Francisco Javier; Gómez-Flores, Minerva; Salas-Alanis, Julio C. |
| 23-Oct-2015 | Repercusiones de la malformación de Chiari 1 en la calidad de vida del paciente | Mestres i Soler, Olga |
| 2012 | P-17 Importance of the ortopantomographic study for the detection of life-treatening rare diseases | Viñals Iglesias, Helena; Manzanares Céspedes, María Cristina; Vázquez Salceda, María del Carmen; Ruiz, C.; Adserias Garriga, Maria José; Chimenos Küstner, Eduardo |
| 27-Aug-2013 | EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome | Farmer, Amy; Aymé, Ségolène; López de Heredia, Miguel; Maffei, Pietro; McCafferty, Susan; Młynarski, Wojciech; Nunes Martínez, Virginia; Parkinson, Kay; Paquis-Flucklinger, Véronique; Rohayem, Julia; Sinnott, Richard; Tillmann, Vallo; Tranebjærg, Lisbeth; Barrett, Timothy G. |
| 16-Apr-2014 | Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study | Pozo, Oscar J.; Marcos, Josep; Fabregat, Andreu; Ventura, Rosa; Casals Mercadal, Gregori; Aguilera, Paula; Segura, Jordi; To i Figueras, Jordi |
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