Associated Papers
Clinical report and genetic analysis of a novel variant in ZMIZ1 causing neurodevelopmental disorder with dysmorphic factors and distal skeletal anomalies in a Chinese family.
He L et al.
Genes & Genomics, 2024
Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene.
Marino L et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2021
Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta.
Li S et al.
Frontiers in Genetics, 2020
Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.
Pöyhönen L et al.
Journal of Clinical Immunology, 2019
Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.
Moreira ES et al.
Journal of Medical Genetics, 2003
Select a paper to view details