Suchergebnisse - "Patel, Mitali"

PubPharm (5)

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

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

3

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

4

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

enthalten in: Nature communications | 2015

von Schmidts, M. | Hou, Y. | Cortés, C. | +125

ErratumIn: Nat Commun. 2016;7:11270. - PMID 27021811

5

Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects

enthalten in: Human molecular genetics | 2014

von Onoufriadis, A. | Shoemark, A. | Schmidts, M. | +21

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