Miho Ishida

ORCID: 0000-0002-4769-2273 · 2 papers in corpus
observational 2025
The Journal of clinical endocrinology and metabolism ·doi:10.1210/clinem/dgaf124

CONTEXT: Establishing the genetic basis of early-onset primary ovarian insufficiency (EO-POI, <25 years) is important, but defining variant pathogenicity is challenging. OBJECTIVE: We aimed to elucidate the genetic architecture of EO-POI i…

observational 2020
Journal of medical genetics ·doi:10.1136/jmedgenet-2019-106561

BACKGROUND: Silver-Russell syndrome is an imprinting disorder that restricts growth, resulting in short adult stature that may be ameliorated by treatment. Approximately 50% of patients have loss of methylation of the imprinting control reg…