Detalhe da pesquisa
1.
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
Am J Med Genet C Semin Med Genet
; 190(1): 89-101, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35343062
2.
Current and Future Treatments in Primary Ciliary Dyskinesia.
Int J Mol Sci
; 22(18)2021 Sep 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34575997
3.
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects.
Am J Hum Genet
; 100(1): 160-168, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28041644
4.
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients.
Hum Mutat
; 39(5): 653-665, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29363216
5.
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia.
Eur Respir J
; 49(2)2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28232410
6.
Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia.
Am J Hum Genet
; 92(1): 88-98, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261303
7.
Diagnostic Methods in Primary Ciliary Dyskinesia.
Paediatr Respir Rev
; 18: 8-17, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26362507
8.
Electronic nose can discriminate colorectal carcinoma and advanced adenomas by fecal volatile biomarker analysis: proof of principle study.
Int J Cancer
; 134(5): 1132-8, 2014 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23959518
9.
Targeted exhaled breath analysis for detection of Pseudomonas aeruginosa in cystic fibrosis patients.
J Cyst Fibros
; 21(1): e28-e34, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34016557
10.
Breathomics in lung disease.
Chest
; 147(1): 224-231, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25560860
11.
Primary ciliary dyskinesia: From diagnosis to molecular mechanisms.
J Pediatr Genet
; 3(2): 115-27, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27625868
12.
Exhaled breath analysis using electronic nose in cystic fibrosis and primary ciliary dyskinesia patients with chronic pulmonary infections.
PLoS One
; 9(12): e115584, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542036
13.
Screening for refractive errors in children: the plusoptiX S08 and the Retinomax K-plus2 performed by a lay screener compared to cycloplegic retinoscopy.
J AAPOS
; 14(6): 478-83, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21168070