Front Genet

Carrier frequency and incidence of alpha-mannosidosis: population database-based study-focus on the East Asian and Korean population

December 1, 2023

PLoS One

Age-associated mortality is partially mediated by TERT promoter mutation status in differentiated thyroid carcinoma

November 10, 2023

Sci Rep

An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data

November 1, 2023

In Vivo

Plasma Circulating Cell-free DNA in Advanced Hepatocellular Carcinoma Patients Treated With Radiation Therapy

September 3, 2023

Mol Genet Genomic Med

Identification of two novel COL3A1 variants in patients with vascular Ehlers-Danlos syndrome

July 17, 2023

Pediatr Res

Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study

June 7, 2023

Mol Syndromol

Differential Diagnosis of Pulmonary Veno-Occlusive Disease and/or Pulmonary Capillary Hemangiomatosis after Identification of Two Novel EIF2AK4 Variants by Whole-Exome Sequencing

June 1, 2023

Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status

May 30, 2023

ASO Visual Abstract: Selection Criteria for Completion Thyroidectomy in Follicular Thyroid Carcinoma Using Primary Tumor Size and TERT Promoter Mutational Status

May 30, 2023

Copy number aberrations in ctDNA enables prognosis prediction and molecular characterization of breast cancer

May 11, 2023