Results 181 to 190 of about 16,014 (252)

Bronchiectasis, Bulla and Ciliary Dyskinesia (Pulmonary Structural/Functional Airway Abnormalities) [PDF]

, 2008
DeClue, Amy E.
core   +1 more source

Founder Mutation inRSPH4AIdentified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia

, 2013
M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan J. Hazucha, Sharon Dell, Maria J. Eriksson, Francis S. Collins, Michael R. Knowles, Maimoona A. Zariwala   +10 more
openalex   +2 more sources

Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia.

JAMA Netw Open
De Jesús-Rojas W, Guerra-Torres KP, Rosado-Ayala AJ, Acevedo-Soto EL, Ramos-Benitez MJ, Mosquera RA.   +5 more
europepmc   +1 more source

ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec. [PDF]

Cells
Bourassa MH, Sillon G, Ding S, Chioccioli M, Lek M, Ma K, Mejia-Garcia A, Gravel S, Vinh DC, Knowles MR, Leigh MW, Davis SD, Ferkol T, Olivier KN, Schecterman EN, Yin W, Sears PR, Gentzsch M, Boyles SE, Bennett WD, Zeman KL, Ostrowski LE, Zariwala MA, Shapiro AJ.   +23 more
europepmc   +1 more source

Primary ciliary dyskinesia: Aetiology, diagnosis and clinical management. [PDF]

Clin Med (Lond)
Collison R, Hyatali SA, Kamenova A, Rashed A, Riley D, Kumar K, Stowell JM, Loebinger MR.   +7 more
europepmc   +1 more source

CCDC39 Mutation-Related Primary Ciliary Dyskinesia with Congenitally Corrected Transposition of the Great Arteries: A Case Report. [PDF]

Am J Case Rep
Ghandourah H, Basalom BA, Shawli AM, Waggass R.   +3 more
europepmc   +1 more source

A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility

Zheng Zhou, Qi Qi, Wenhua Wang, Jie Dong, Juanjuan Xu, Yuming Feng, Zhichuan Zou, Li Chen, Jinzhao Ma, Bing Yao   +9 more
openalex   +1 more source

Faculty Opinions recommendation of Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure.

, 2015
Nicholas Katsanis
openalex   +2 more sources

Challenges in postoperative management of a patient with primary ciliary dyskinesia and Joubert syndrome and related disorders with congenital heart disease. [PDF]

BMJ Case Rep
Kumasaka I, Takushi H, Watanabe T, Ota C.   +3 more
europepmc   +1 more source

Nasal Nitric Oxide Is an Important Test in the Diagnostic Pathway for Primary Ciliary Dyskinesia

, 2013
Jane S. Lucas, Woolf T. Walker
openalex   +2 more sources