Suchergebnisse - "Patel, Mitali"

PubPharm (8)

1

Defective airway intraflagellar transport underlies a combined motile and primary ciliopathy syndrome caused by IFT74 mutations

enthalten in: Human molecular genetics | 2023

von Fassad, M. | Rumman, N. | Junger, K. | +8

2

PCD Detect : enhancing ciliary features through image averaging and classification

enthalten in: American journal of physiology. Lung cellular and molecular physiology | 2020

von Shoemark, A. | Pinto, A. | Patel, M. | +4

3

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

enthalten in: Journal of medical genetics | 2020

von Fassad, M. | Patel, M. | Shoemark, A. | +34

4

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

enthalten in: Clinical genetics | 2020

von Fassad, M. | Shoman, W. | Morsy, H. | +7

5

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

enthalten in: Thorax | 2019

von Best, S. | Shoemark, A. | Rubbo, B. | +25

6

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

enthalten in: American journal of human genetics | 2018

von Fassad, M. | Shoemark, A. | Legendre, M. | +24

7

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

enthalten in: American journal of human genetics | 2018

von Fassad, M. | Shoemark, A. | le Borgne, P. | +15

8

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

enthalten in: Thorax | 2018

von Shoemark, A. | Moya, E. | Hirst, R. | +34

CommentIn: Thorax. 2018 Feb;73(2):101-102. - PMID 29133352

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