Associated Papers
Trio-based exome sequencing and high-resolution HLA typing in families of patients with autoimmune adrenal insufficiency and autoimmune polyglandular syndrome.
Buianova A et al.
Plos One, 2024
39423205 (PubMed )
Supplement: pone.0312335.s007.xlsx › Family_A
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
Whole-Exome Sequencing for Identification of Genetic Variants Involved in Vitamin D Metabolic Pathways in Families With Vitamin D Deficiency in Saudi Arabia.
Alharazy S et al.
Frontiers in Genetics, 2021
Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.
Alharazy S et al.
Pakistan Journal of Medical Sciences, 0
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