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| Issue Date | Title | Author(s) |
|---|---|---|
| 7-Jun-2007 | Anàlisi genètica i molecular de les malalties Gangliosidosi GM1 i Morquio B | Santamaría Merino, Raúl |
| 1-Jan-2016 | Practice and knowledge about diagnosis and treatment of alpha-1 antitrypsin deficiency in Spain and Portugal | Esquinas López, Cristina; Barrecheguren, Miriam; Sucena, Maria; Rodríguez, Esther; Fernandez, Sandra; Miravitlles Fernández, Marc |
| 1986 | Hipofosfatasia: bases fisiopatológicas y características clínicas | Chimenos Küstner, Eduardo; Sáez Penoucos, Jesús; Perejoan Rouch, Mariano |
| 15-Oct-2022 | Diagnostic odyssey in an adult patient with ophthalmologic abnormalities and hearing loss: Contribution of RNA-seq to the diagnosis of a PEX1 deficiency. | Muñoz-Pujol, Gerard; Alforja, Socorro; Casaroli Marano, Ricardo Pedro; Morales Romero, Blai; García Villoria, Judit; Yépez, Vicente A; Gagneur, Julien; Gusic, Mirjana; Prokisch, Holger; Tort, Frederic; Ribes Rubió, Maria Antònia |
| 30-Dec-2013 | First description of phosphofructokinase deficiency in Spain: identification of a novel homozygous missense mutation in the PFKM gene | Vives i Corrons, Joan Lluís; Koralkova, Pavla; Grau Junyent, Josep M. (Josep Maria); Mañú Pereira, María del Mar; Wijk, Richard van |
| Sep-2017 | Genetic diagnosis of α1-antitrypsin deficiency using DNA from buccal swab and serum samples | Belmonte, Irene; Barrecheguren, Miriam; Esquinas López, Cristina; Rodríguez, Esther; Miravitlles Fernández, Marc; Rodríguez-Frías, Francisco |
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