Suchergebnisse - "Patel, Mitali"

PubPharm (4)

1

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

2

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

3

Primary ciliary dyskinesia with normal ultrastructure : three-dimensional tomography detects absence of DNAH11

enthalten in: The European respiratory journal | 2018

von Shoemark, A. | Burgoyne, T. | Kwan, R. | +13

4

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

enthalten in: Nature communications | 2017

von Olcese, C. | Patel, M. | Shoemark, A. | +81

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