Showing results (101-110 of 129) with videos related to
Sort By:
Pageof 13
Human Mutation|August 31, 2019
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean alleleRahma Mani, Sabrina Belkacem, Zohra Soua, et al.Journal of Medical Genetics|February 26, 2024
Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesiaLucie Thomas, Laurence Cuisset, Jean-Francois Papon, et al.American Journal of Human Genetics|January 23, 2019
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary ClearanceXimena M Bustamante-Marin, Wei-Ning Yin, Patrick R Sears, et al.American Journal of Respiratory Cell and Molecular Biology|May 6, 2026
FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesiaLucie Thomas, Jacques Serizay, Rahma Mani, et al.American Journal of Human Genetics|August 4, 2016
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male InfertilityElma El Khouri, Lucie Thomas, Ludovic Jeanson, et al.Journal of Human Genetics|January 20, 2022
Combining RSPH9 founder mutation screening and next-generation sequencing analysis is efficient for primary ciliary dyskinesia diagnosis in Saudi patientsImed Mabrouk, Nawal Al-Harthi, Rahma Mani, et al.Human Molecular Genetics|January 25, 2018
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesiaPatrick Lorès, Charles Coutton, Elma El Khouri, et al.Journal of Medical Genetics|June 14, 2012
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesiaSylvain Blanchon, Marie Legendre, Bruno Copin, et al.Human Molecular Genetics|January 22, 2016
Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancerNadia Nathan, Violaine Giraud, Clément Picard, et al.Nature Communications|December 19, 2018
Proteasomal degradation of NOD2 by NLRP12 in monocytes promotes bacterial tolerance and colonization by enteropathogensSylvain Normand, Nadine Waldschmitt, Andreas Neerincx, et al.Pageof 13