Associated Papers
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).
Gippert S et al.
Endocrine, 2024
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment.
Zhang J et al.
Journal of Clinical Immunology, 2024
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