Associated Papers
Discovery of a Pathogenic NME5 Variant Underlying Acephalic Spermatozoa Syndrome: Unraveling a Novel Genotype-Phenotype Association in Male Infertility.
Tian Y et al.
Clinical Genetics, 2026
Clinical Manifestations and Genotype of Primary Ciliary Dyskinesia Diagnosed in Korea: Multicenter Study.
Kim M et al.
Allergy, Asthma & Immunology Research, 2023
Genetic Analysis of Korean Adult Patients with Nontuberculous Mycobacteria Suspected of Primary Ciliary Dyskinesia Using Whole Exome Sequencing.
Cho EH et al.
Yonsei Medical Journal, 2021
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects.
Cho EH et al.
Clinical Genetics, 2020
Select a paper to view details