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List of works by Mahmoud Fassad

C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia

scientific article

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

scientific article published on 25 April 2024

Clinical and genetic spectrum in 33 Egyptian families with suspected primary ciliary dyskinesia

scientific article published on 05 December 2019

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

scientific article published on 25 December 2019

Expanding the phenome and variome of skeletal dysplasia.

scientific article published on 5 April 2018

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

scientific article

Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.

scientific article published on 21 November 2018

Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index

scientific article published on 24 January 2018

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School

scientific article published on 18 December 2018

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

scientific article published on 30 August 2018

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

scientific article

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