Suchergebnisse - "Patel, Mitali"

PubPharm (7)

1

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

2

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

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

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

5

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

6

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

7

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

enthalten in: Journal of medical genetics | 2014

von Onoufriadis, A. | Shoemark, A. | Munye, M. | +18

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