Associated Papers
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Rumman N et al.
Erj Open Research, 2023
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia.
Shoemark A et al.
The European Respiratory Journal, 2021
DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease.
Xia H et al.
Plos One, 2021
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11.
Shoemark A et al.
The European Respiratory Journal, 2018
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.
Wu RC et al.
Cold Spring Harbor Molecular Case Studies, 2017
29162652 (PubMed )
Supplement: supp_mcs.a001693_Supplemental_Table_2.xlsx › Supplementary_Table_2.txt
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