Browsing "1. Journal Papers" by Author : 7517

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Showing results 1 to 9 of 9

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Issue DateTitleJournal Title
2023Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report EUROPEAN HEART JOURNAL-CASE REPORTS
2022An induced pluripotent stem cell line (YCMi006-A) generated from a patient with hypertrophic cardiomyopathy who carries the ACTA1 mutation p.Ile343Met STEM CELL RESEARCH
2022Derivation of YCMi005-A, a human-induced pluripotent stem cell line, from a patient with dilated cardiomyopathy carrying missense variant in TPM1 (p. Glu192Lys) STEM CELL RESEARCH
2021Establishment of a novel human iPSC line (YCMi003-A) from a patient with dilated cardiomyopathy carrying genetic variant LMNA p.Asp364His STEM CELL RESEARCH
2022Generation of a human induced pluripotent stem cell line YCMi004-A from a patient with dilated cardiomyopathy carrying a protein-truncating mutation of the Titin gene and its differentiation towards cardiomyocytes STEM CELL RESEARCH
2022Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing FRONTIERS IN ENDOCRINOLOGY
2020Low-Dose Triple Antihypertensive Combination Therapy in Patients with Hypertension: A Randomized, Double-Blind, Phase II Study DRUG DESIGN DEVELOPMENT AND THERAPY
2019Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis BMC Medical Genomics
2023Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19JOURNAL OF INFECTIOUS DISEASES
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