María Cols

Connexin 30 (GJB6) deletion as a cause of a false positive sweat test result

Anna Rossell, Aleix Soler‐Garcia, Loreto Martorell, M.A. Clavería et autres

es (code pays fourni par la source)

Evaluation of CHROMagar™ B. cepacia agar for the detection of Burkholderia cepacia complex species from sputum samples of patients with cystic fibrosis

Ainhize Maruri-Aransolo, Juan de Dios Caballero, Malkoa Michelena, María J. Medina-Pascual et autres

es (code pays fourni par la source)

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Noelia Baz-Redón, Laura Sánchez-Bellver, Mónica Fernández‐Cancio, Sandra Rovira‐Amigo et autres

es, gb (code pays fourni par la source)

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia

Noelia Baz-Redón, Sandra Rovira‐Amigo, Mónica Fernández‐Cancio, Silvia Castillo et autres

es (code pays fourni par la source)

Implementation of a gene panel for the genetic diagnosis of primary ciliary dyskinesia

Sandra Rovira‐Amigo, Noelia Baz Redon, Núria Camats Tarruella, Mónica Fernández Cancio et autres

es (code pays fourni par la source)

Preliminary results of high-speed video-microscopy and immunofluorescence analysis in a Spanish cohort of patients with primary ciliary dyskinesia

Sandra Rovira‐Amigo, Noelia Baz Redon, Núria Camats Tarruella, Mónica Fernández Cancio et autres

es, ad (code pays fourni par la source)

20 years experience with newborn screening for cystic fibrosis in Catalonia

Ana Argudo‐Ramírez, Rodriguez Maykel López, Sonia Pajares, José Manuel González de Aledo‐Castillo et autres

es (code pays fourni par la source)

Sirolimus as an alternative treatment in patients with granulomatous‐lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells

Àngela Deyà‐Martínez, Ana Esteve‐Solé, Natalia Vélez‐Tirado, Verónica Celis et autres

es, co (code pays fourni par la source)

Antibiotic resistance and population structure of cystic fibrosis Pseudomonas aeruginosa isolates from a Spanish multi-centre study

Carla López-Causapé, Juan de Dios-Caballero, Marta Cobo, Amparo Escribano et autres

es (code pays fourni par la source)

41 Impact of treatment with ivacaftor on Spanish cystic fibrosis patients with gating mutations

Carmen Luna‐Paredes, L. Máiz, Pedro Mondéjar-López, M.E. Quintana-Gallego et autres

es (code pays fourni par la source)

412 Spanish multicentre registry-based study on the phenotype of patients with cystic fibrosis carrying the V232D (c.695T>A) mutation

María Dolores Pastor‐Vivero, C. Vázquez, M.E. Quintana-Gallego, Isabel Delgado et autres

Bronchopulmonary infection–colonization patterns in Spanish cystic fibrosis patients: Results from a national multicenter study

Juan de Dios Caballero, Ana Royuela, Amparó Solé, Casilda Olveira et autres

es (code pays fourni par la source)