Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to AsthenozoospermiaMarjorie Whitfield, Marie Legendre, Laurence Stouvenel et al.|The American Journal of Human Genetics|2019Cited by 196
Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary DyskinesiaEsther Kott, Serge Amselem, Philippe Duquesnoy et al.|The American Journal of Human Genetics|2012Cited by 190
Isolated Growth Hormone Deficiency Type IA Associated with a 45-Kilobase Gene Deletion within the Human Growth Hormone Gene Cluster in an Italian FamilyLucia Ghizzoni, Sergio Bernasconi, Philippe Duquesnoy et al.|Pediatric Research|1994Cited by 29
Skewed X-chromosome inactivation drives the proportion of <i>DNAAF6</i>-defective airway motile cilia and variable expressivity in primary ciliary dyskinesiaLucie Thomas, Marie Legendre, Laurence Cuisset et al.|Journal of Medical Genetics|2024Cited by 6