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Analysis of the most frequent mutations associated with primary ciliary dyskinesia in Spanish patients applying next generation sequencing methods

Koistra, Nataliia (Universitat Politècnica de València, 2021-10-06)

[ES] Discinesia Ciliar Primaria (DCP) es un trastorno hereditario de carácter autosómico recesivo que se caracteriza por la inmovilidad ciliar. El diagnóstico de la enfermedad es complicado debido a la similitud de síntomas ...
Primary ciliary dyskinesia assessment by means of optical flow analysis of phase-contrast microscopy images

Parrilla Bernabé, Eduardo; Armengot, Miguel; Mata, Manuel; Sánchez Vílchez, José Manuel; Cortijo, Julio; Hueso Pagoaga, José Luís; Riera Guasp, Jaime; Moratal Pérez, David (Elsevier, 2014-04)

Primary ciliary dyskinesia implies cilia with defective or total absence of motility, which may result in sinusitis, chronic bronchitis, bronchiectasis and male infertility. Diagnosis can be difficult and is based on an ...

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