Results 141 to 150 of about 9,533 (204)

Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia. [PDF]

open access: yesCase Rep Genet
Feshbach LH   +7 more
europepmc   +1 more source

Functional Characterization of a Novel Homozygous <i>DNAH5</i> Single-Nucleotide Intronic Deletion in a Consanguineous Portuguese Family with Primary Ciliary Dyskinesia. [PDF]

open access: yesCells
Hilário C   +11 more
europepmc   +1 more source

European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia. [PDF]

open access: yesEur Respir J
Shoemark A   +22 more
europepmc   +1 more source

Nutrition and growth of primary ciliary dyskinesia (PCD) patients: a systematic review

open access: yes
Karavasiloglou N   +4 more
europepmc   +1 more source

Ventilation-perfusion Scan: A Functional Imaging Approach to Regional Lung Disease in Primary Ciliary Dyskinesia. [PDF]

open access: yesOpen Respir Med J
Román-Ríos G   +4 more
europepmc   +1 more source

Loss of RPGR disrupts motile cilia and causes primary ciliary dyskinesia by affecting F-actin dynamics. [PDF]

open access: yesJ Clin Invest
Wu Y   +16 more
europepmc   +1 more source

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