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Respiratory Medicine|June 8, 2006
Calcium stone lithoptysis in primary ciliary dyskinesiaMarcus P Kennedy, Peadar G Noone, John Carson, et al.American Journal of Respiratory and Critical Care Medicine|December 6, 2003
Primary ciliary dyskinesia: diagnostic and phenotypic featuresPeadar G Noone, Margaret W Leigh, Aruna Sannuti, et al.Human Genetics|June 5, 2003
Increased prevalence of CFTR mutations and variants and decreased chloride secretion in primary sclerosing cholangitisSunil Sheth, Julie C Shea, Michele D Bishop, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 24, 2002
The I148T CFTR allele occurs on multiple haplotypes: a complex allele is associated with cystic fibrosisElizabeth M Rohlfs, Zhaoqing Zhou, Elaine A Sugarman, et al.Ultrastructural Pathology|August 21, 2013
A new tool improves diagnostic test performance for transmission em evaluation of axonemal dynein armsW Keith Funkhouser, Marc Niethammer, Johnny L Carson, et al.Nature Communications|December 5, 2014
Cryo-electron tomography reveals ciliary defects underlying human RSPH1 primary ciliary dyskinesiaJianfeng Lin, Weining Yin, Maria C Smith, et al.Molecular Genetics & Genomic Medicine|August 3, 2019
The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesiaWilliam B Hannah, Suzanne DeBrosse, BreAnna Kinghorn, et al.Molecular Genetics & Genomic Medicine|June 16, 2021
Autosomal dominant variants in FOXJ1 causing primary ciliary dyskinesia in two patients with obstructive hydrocephalusAdam J Shapiro, Kimberley Kaspy, M Leigh Ann Daniels, et al.Journal of Pediatric Gastroenterology and Nutrition|February 24, 2012
Definitions of pediatric pancreatitis and survey of present clinical practicesVeronique D Morinville, Sohail Z Husain, Harrison Bai, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2009
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndromeMargaret W Leigh, Jessica E Pittman, Johnny L Carson, et al.Pageof 23