Associated Papers
A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.
Ajam-Hosseini M et al.
Bmc Medical Genomics, 2023
36829172 (PubMed )
Supplement: 12920_2023_1467_MOESM1_ESM.xls › BY1261.txt.nznd
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Nuclease-Mediated Gene Therapies for Inherited Metabolic Diseases of the Liver.
Bryson TE et al.
The Yale Journal of Biology and Medicine, 2017
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