Suchergebnisse - "Patel, Mitali"

PubPharm (4)

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

DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport

enthalten in: Human molecular genetics | 2018

von Hartill, V. | van de Hoek, G. | Patel, M. | +25

3

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

4

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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