Showing results (11-20 of 23) with videos related to
Sort By:
Pageof 3
The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.ERJ Open Research|April 20, 2023
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrumNisreen Rumman, Mahmoud R Fassad, Corine Driessens, et al.American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.Thorax|September 1, 2018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaSunayna Best, Amelia Shoemark, Bruna Rubbo, et al.The European Respiratory Journal|January 22, 2021
Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesiaAmelia Shoemark, Bruna Rubbo, Marie Legendre, et al.EMBO Molecular Medicine|April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stabilityDirenis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 6, 2018
Expanding the phenome and variome of skeletal dysplasiaSateesh Maddirevula, Saud Alsahli, Lamees Alhabeeb, et al.Pageof 3