Associated Papers
Segregation of the COL6A2 Variant (c.1817-3C>G) in a Consanguineous Saudi Family with Bethlem Myopathy.
Aldharee H et al.
Genes, 2024
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1
Causative variant profile of collagen VI-related dystrophy in Japan.
Inoue M et al.
Orphanet Journal of Rare Diseases, 2021
Success of Face Analysis Technology in Rare Genetic Diseases Diagnosed by Whole-Exome Sequencing: A Single-Center Experience.
Elmas M et al.
Molecular Syndromology, 2020
Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience.
Elmas M et al.
Molecular Biology Reports, 2019
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