Associated Papers
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
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
Lenz D et al.
Journal of Clinical Immunology, 2021
Infantile fever-triggered acute liver failure caused by novel neuroblastoma amplified sequence mutations: a case report.
Li W et al.
Bmc Gastroenterology, 2020
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Staufner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Complex Multisystem Phenotype With Immunodeficiency Associated With NBAS Mutations: Reports of Three Patients and Review of the Literature.
Khoreva A et al.
Frontiers in Pediatrics, 2020
SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy.
Fischer-Zirnsak B et al.
Journal of Human Genetics, 2019
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