Associated Papers
Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N et al.
Journal of Inherited Metabolic Disease, 2022
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I et al.
American Journal of Medical Genetics. Part A, 2021
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