Works matching DE "CILIARY motility disorders"
Results: 545
Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts.
- Published in:
- Pediatric Cardiology, 2017, v. 38, n. 2, p. 410, doi. 10.1007/s00246-016-1531-3
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- Publication type:
- Article
Before an abducens palsy can be attributed to a congenital vitamin-B12 deficiency, alternative causes must be ruled out.
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- Child's Nervous System, 2023, v. 39, n. 9, p. 2269, doi. 10.1007/s00381-023-06079-9
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- Publication type:
- Article
Ependymal ciliary motion and their role in congenital hydrocephalus.
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- Child's Nervous System, 2021, v. 37, n. 11, p. 3355, doi. 10.1007/s00381-021-05194-9
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- Publication type:
- Article
P-40 A rare cause of male infertility: 46, XX testicular disorder of sex development.
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- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.040
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- Publication type:
- Article
Recognising primary ciliary dyskinesia in adult bronchiectasis - insights from the PROGNOSIS study.
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- African Journal of Thoracic & Critcal Care Medicine, 2024, v. 30, n. 4, p. 177
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- Publication type:
- Article
Which side are they on? Diagnosing primary ciliary dyskinesias in low- or middle-income countries: A review and case series.
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- African Journal of Thoracic & Critcal Care Medicine, 2023, v. 29, n. 3, p. 131, doi. 10.7196/AJTCCM.2023.v29i3.425
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- Article
Is the heart pointing toward the diagnosis?
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- African Journal of Thoracic & Critcal Care Medicine, 2022, v. 28, n. 4, p. 201
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- Publication type:
- Article
COVID-19 Vaccinations: Perceptions and Behaviours in People with Primary Ciliary Dyskinesia.
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- Vaccines, 2021, v. 9, n. 12, p. 1496, doi. 10.3390/vaccines9121496
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- Publication type:
- Article
Cilia Ultrastructure Associated with Primary Ciliary Dyskinesia in Omani Patients.
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- Sultan Qaboos University Medical Journal, 2023, v. 23, n. 1, p. 76, doi. 10.18295/squmj.4.2022.029
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- Publication type:
- Article
Diseases of the primary cilia: a clinical characteristics review.
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- Pediatric Nephrology, 2025, v. 40, n. 3, p. 611, doi. 10.1007/s00467-024-06528-w
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- Publication type:
- Article
Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms.
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- Pediatric Nephrology, 2011, v. 26, n. 8, p. 1181, doi. 10.1007/s00467-010-1697-5
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- Publication type:
- Article
Ciliopathies: an expanding disease spectrum.
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- Pediatric Nephrology, 2011, v. 26, n. 7, p. 1039, doi. 10.1007/s00467-010-1731-7
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- Publication type:
- Article
상기도 염증성 질환에서 비강 산화질소.
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- Journal of Rhinology, 2021, v. 28, n. 2, p. 81, doi. 10.18787/jr.2021.00361
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- Publication type:
- Article
Personalized aerosolised bacteriophage treatment of a chronic lung infection due to multidrug-resistant Pseudomonas aeruginosa.
- Published in:
- 2023
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- Publication type:
- Case Study
confounding bronchopulmonary situs abnormality after bilateral lung transplantation.
- Published in:
- 2022
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- Publication type:
- Case Study
Expanding the Genotypic and Phenotypic Spectrum of OFD1 -Related Conditions: Three More Cases.
- Published in:
- Genes, 2024, v. 15, n. 12, p. 1633, doi. 10.3390/genes15121633
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- Publication type:
- Article
Primary Ciliary Dyskinesia in a Portuguese Bronchiectasis Outpatient Clinic.
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- Genes, 2023, v. 14, n. 3, p. 541, doi. 10.3390/genes14030541
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- Publication type:
- Article
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital.
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- Genes, 2022, v. 13, n. 7, p. 1252, doi. 10.3390/genes13071252
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- Publication type:
- Article
Η σχετιζόμενη με την υγεία ποιότητα ζωής ασθενών με πρωτοπαθή δυσκινησία των κροσσών.
- Published in:
- Cyprus Nursing Chronicles, 2018, v. 18, n. 2, p. 9
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- Publication type:
- Article
Kartagener's syndrome: a case report.
- Published in:
- 2018
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- Publication type:
- journal article
Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia.
- Published in:
- International Journal of Endocrinology, 2013, p. 1, doi. 10.1155/2013/731423
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- Publication type:
- Article
EMBARCing on a new era for bronchiectasis: a review series for the Seventh World Bronchiectasis Conference.
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- European Respiratory Review, 2024, v. 33, n. 173, p. 1, doi. 10.1183/16000617.0124-2024
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- Publication type:
- Article
Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review.
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- European Respiratory Review, 2023, v. 32, n. 169, p. 1, doi. 10.1183/16000617.0200-2022
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- Publication type:
- Article
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes.
- Published in:
- 2015
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- Publication type:
- Case Study
Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives.
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- BMC Proceedings, 2016, v. 10, p. 5, doi. 10.1186/s12919-016-0067-0
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- Publication type:
- Article
Now What? Collective Sensemaking and Sensegiving in the Cystic Fibrosis Community in Sweden During the Initial Phase of the COVID-19 Pandemic.
- Published in:
- Health Communication, 2023, v. 38, n. 14, p. 3102, doi. 10.1080/10410236.2022.2134705
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- Publication type:
- Article
The primary ciliary dyskinesia-related genetic risk score is associated with susceptibility to adult-onset asthma.
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- PLoS ONE, 2024, v. 19, n. 3, p. 1, doi. 10.1371/journal.pone.0300000
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- Publication type:
- Article
Cytomegalovirus pneumonia in an immunocompetent host with primary ciliary dyskinesia: A case report.
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- Monaldi Archives for Chest Disease, 2021, v. 91, n. 3, p. 124, doi. 10.4081/monaldi.2021.1638
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- Publication type:
- Article
Nursing Continuing Professional Development Activity: May/June 2024.
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- Neonatal Network, 2024, v. 43, n. 3, p. 182, doi. 10.1891/0730-0832.43.3.182
- Publication type:
- Article
Situs Inversus Totalis in a Newborn With Primary Ciliary Dyskinesia.
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- Neonatal Network, 2024, v. 43, n. 3, p. 148, doi. 10.1891/NN-2023-0073
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- Publication type:
- Article
The Role of Multi-Slice Computed Tomography for the Assessment of Bronchiectasis.
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- Egyptian Journal of Hospital Medicine, 2021, v. 84, p. 1724
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- Publication type:
- Article
'Don't let it hold you back' — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis.
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- Journal of Health Psychology, 2024, v. 29, n. 9, p. 1029, doi. 10.1177/13591053231223912
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- Publication type:
- Article
Whole exome sequencing enhances diagnosis of hereditary bronchiectasis.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03661-z
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- Publication type:
- Article
Genetic spectrum and genotype–phenotype correlations in DNAH5-mutated primary ciliary dyskinesia: a systematic review.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03596-5
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- Publication type:
- Article
CASE STUDY 2: IS MATT ELIGIBLE FOR PALIVIZUMAB PROPHYLAXIS?
- Published in:
- 2010
- Publication type:
- Case Study
Successful Transjugular Percutaneous Atrial Septal Defect Closure in a Dextrocardia Patient with Kartagener's Syndrome, Situs Inversus, Interrupted Inferior Vena Cava, and Bilateral Superior Vena Cava.
- Published in:
- 2023
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- Publication type:
- Case Study
Ciliary Function, Antigen Stasis and Asthma.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 10043, doi. 10.3390/ijms251810043
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- Publication type:
- Article
TAS2R38 Genotype Does Not Affect SARS-CoV-2 Infection in Primary Ciliary Dyskinesia.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8635, doi. 10.3390/ijms25168635
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- Publication type:
- Article
Role of Nasal Nitric Oxide in Primary Ciliary Dyskinesia and Other Respiratory Conditions in Children.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16159, doi. 10.3390/ijms242216159
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- Publication type:
- Article
Special Issue "Latest Review Papers in Molecular Genetics and Genomics 2023".
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- International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14171, doi. 10.3390/ijms241814171
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- Publication type:
- Article
Targeting Epithelium Dysfunction and Impaired Nasal Biofilms to Treat Immunological, Functional, and Structural Abnormalities of Chronic Rhinosinusitis.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 15, p. 12379, doi. 10.3390/ijms241512379
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- Publication type:
- Article
Sleep-Disordered Breathing and Chronic Respiratory Infections: A Narrative Review in Adult and Pediatric Population.
- Published in:
- 2023
- By:
- Publication type:
- Literature Review
Schmidtea mediterranea as a Model Organism to Study the Molecular Background of Human Motile Ciliopathies.
- Published in:
- 2023
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- Publication type:
- Literature Review
The RSPH4A Gene in Primary Ciliary Dyskinesia.
- Published in:
- 2023
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- Publication type:
- Literature Review
Perspectives for Primary Ciliary Dyskinesia.
- Published in:
- 2022
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- Publication type:
- Editorial
Expression of a Truncated Form of ODAD1 Associated with an Unusually Mild Primary Ciliary Dyskinesia Phenotype.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1753, doi. 10.3390/ijms23031753
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- Publication type:
- Article
PCD Genes—From Patients to Model Organisms and Back to Humans.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1749, doi. 10.3390/ijms23031749
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- Publication type:
- Article
The Complex Functions of the NME Family—A Matter of Location and Molecular Activity.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 23, p. 13083, doi. 10.3390/ijms222313083
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- Publication type:
- Article
Molecular Approaches Fighting Nonsense.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 21, p. 11933, doi. 10.3390/ijms222111933
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- Publication type:
- Article
Current and Future Treatments in Primary Ciliary Dyskinesia.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9834, doi. 10.3390/ijms22189834
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- Publication type:
- Article