Suchergebnisse - "Knowles, Michael R"

PubPharm (308)

1

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

enthalten in: Science (New York, N.Y.) | 2024

von Dodd, D. | Mechaussier, S. | Yeyati, P. | +81

2

Recessively Inherited Deficiency of Secreted WFDC2 (HE4) Causes Nasal Polyposis and Bronchiectasis

enthalten in: American journal of respiratory and critical care medicine | 2024

von Dougherty, G. | Ostrowski, L. | Nöthe-Menchen, T. | +38

3

MagicalRsq-X : A cross-cohort transferable genotype imputation quality metric

enthalten in: American journal of human genetics | 2024

von Sun, Q. | Yang, Y. | Rosen, J. | +24

4

Genetic variation in severe cystic fibrosis liver disease is associated with novel mechanisms for disease pathogenesis

enthalten in: Hepatology (Baltimore, Md.) | 2024

von Stonebraker, J. | Pace, R. | Gallins, P. | +15

5

Decoding negative genetic panels in primary ciliary dyskinesia

enthalten in: Pediatric pulmonology | 2024

von Gardner, R. | Sagel, S. | Knowles, M. | +4

6

Long G4-rich enhancer physically interacts with EXOC3 promoter via a G4:G4 DNA-based mechanism

enthalten in: bioRxiv.org | 2024

von DeMeis, J. | Roberts, J. | Delcher, H. | +17

7

Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD) : a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial

enthalten in: The Lancet. Respiratory medicine | 2024

von Ringshausen, F. | Shapiro, A. | Nielsen, K. | +53

8

Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia

enthalten in: Chest | 2023

von Kaspy, K. | Dell, S. | Davis, S. | +14

9

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit

enthalten in: Pediatric pulmonology | 2023

von Hunter-Schouela, J. | Geraghty, M. | Hegele, R. | +10

CommentIn: Pediatr Pulmonol. 2023 Sep;58(9):2437-2438. - PMID 37278553

10

Genetic Modifiers of Cystic Fibrosis Lung Disease Severity : Whole-Genome Analysis of 7,840 Patients

enthalten in: American journal of respiratory and critical care medicine | 2023

von Zhou, Y. | Gallins, P. | Pace, R. | +27

CommentIn: Am J Respir Crit Care Med. 2023 May 15;207(10):1261-1262. - PMID 36961916

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