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The European Respiratory Journal|April 4, 2024
High risk of lung cancer in surfactant-related gene variant carriersAlexandre Brudon, Marie Legendre, Arthur Mageau, et al.The European Respiratory Journal|August 29, 2020
Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancerMarie Legendre, Afifaa Butt, Raphaël Borie, et al.The European Respiratory Journal|May 13, 2017
Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosisPierre-Antoine Juge, Raphaël Borie, Caroline Kannengiesser, et al.Nature Genetics|December 7, 2010
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogsAnne-Christine Merveille, Erica E Davis, Anita Becker-Heck, et al.Nature Communications|February 9, 2017
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Chiara Olcese, Mitali P Patel, Amelia Shoemark, et al.Respiration; International Review of Thoracic Diseases|January 25, 2022
Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort StudyEffrosyni D Manali, Caroline Kannengiesser, Raphael Borie, et al.American Journal of Human Genetics|July 30, 2013
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6Maimoona A Zariwala, Heon Yung Gee, Małgorzata Kurkowiak, et al.The New England Journal of Medicine|October 23, 2018
MUC5B Promoter Variant and Rheumatoid Arthritis with Interstitial Lung DiseasePierre-Antoine Juge, Joyce S Lee, Esther Ebstein, et al.Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.Pageof 13