Associated Papers
The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.
Pittman M et al.
Genome Research, 2026
41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9
Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients.
Peters B et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
40433928 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Tabelle1
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N et al.
Molecular Genetics and Metabolism, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
NBAS disease: 14 new patients, a recurrent mutation, and genotype-phenotype correlation among 24 Chinese patients.
Li ZD et al.
Hepatology Research : the Official Journal of the Japan Society of Hepatology, 2020
Select a paper to view details