Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
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
Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.
Soukupova J et al.
Plos One, 2018
29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3
Novel near-diploid ovarian cancer cell line derived from a highly aneuploid metastatic ovarian tumor.
Rozenblum E et al.
Plos One, 2017
28787462 (PubMed )
Supplement: pone.0182610.s001.xlsx › H1-Ea-La_mut
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Bodian DL et al.
Plos One, 2014
24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3
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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