Results 171 to 180 of about 16,014 (252)

Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt. [PDF]

Front Mol Biosci
Rizk H, Hjeij R, Al-Haggar M, Dworniczak B, Otto D, Olbrich H, Osman E, Omran H, Eldesoky T.   +8 more
europepmc   +1 more source

Novel homozygous <i>C3orf67</i> gene variant associated with primary ciliary dyskinesia in a Saudi pediatric patient: A case report. [PDF]

World J Exp Med
Alkhadidi F, AlSharif H, AlQthami A, Alkhaldi SH, Alsuwat SA, Abosabie SA, Abosabie SA, Kamal NM.   +7 more
europepmc   +1 more source

RPGR mutation associated with retinitis pigmentosa, impaired hearing, and sinorespiratory infections [PDF]

, 2003
Bamiou, DE, Bhattacharya, SS, Bird, AC, Cheetham, ME, Downes, SM, Ebenezer, ND, Hardcastle, AJ, Holder, GE, Jenkins, SA, Patel, RJ, Webster, AR, Zito, I   +11 more
core   +2 more sources

A familial case of primary ciliary dyskinesia or/rare variants in the DNAAF11 gene

T. A. Kyian, A. G. Demchenko, S. A. Smirnikhina, E. E. Bragina, E. E. Lotnik, O. A. Shchagina, E. I. Kondratyeva   +6 more
openalex   +2 more sources

Characterisation of a primary ciliary dyskinesia model generated from BMI1-transduced basal epithelial cells. [PDF]

J Cell Sci
Dalbay MT, Shahaj E, Guerrini I, Lee DDH, Straatman-Iwanowska A, Mitchison HM, Baines DL, Hirst RA, Hogg C, O'Callaghan C, Hart SL.   +10 more
europepmc   +1 more source

Case Report: Minigene assays reveal a novel <i>DNAAF6</i> intronic variant as the key etiology for primary ciliary dyskinesia. [PDF]

Front Genet
Long Y, Li H, Yu H, Yi Q, Meng X, Wang X, Ren Q, Ding D, Li H, Zhang F, Qiu H, Yang X.   +11 more
europepmc   +1 more source

Kartagener’s syndrome: review of a case series [PDF]

, 2015

core   +1 more source

Models of Ciliary Dysfunction:Time to Expand [PDF]

, 2018
Shoemark, Amelia
core   +2 more sources

Repeatability of Multiple Breath Washout in Pediatric Primary Ciliary Dyskinesia. [PDF]

Pediatr Pulmonol
Wee WB, Bashi LM, Jensen R, Rayment JH, To T, Ratjen F, Santyr G, Dell SD.   +7 more
europepmc   +1 more source

First report of DNAI2-associated primary ciliary dyskinesia in Libya: A case from a nonconsanguineous marriage. [PDF]

Respir Med Case Rep
Fathi Alatrash Z, Ahmed Elbousify A, Elbousify AI.   +2 more
europepmc   +1 more source