Associated Papers
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.
Cetin GO et al.
Ophthalmic Genetics, 2022
Actionable genomic variants in 6045 participants from the Qatar Genome Program.
Elfatih A et al.
Human Mutation, 2021
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
Qian Z et al.
Jimd Reports, 2020
The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.
Mavinakere M et al.
Journal of Inherited Metabolic Disease, 2001
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