Miho Ishida

Charterhouse Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 32 publications

Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.

Real-world utility of diagnostic gene panels for childhood short stature and pituitary hormone deficiency in the UK.

Journal: Archives of disease in childhood

Published: September 30, 2025

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Silver-Russell syndrome secondary to rare (epi)genotypes exhibits phenotypic heterogeneity challenging clinical diagnosis.

Journal: Clinical epigenetics

Published: May 13, 2025

Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.

Pathogenesis of Noonan Syndrome is Modulated by NOC2L, a Novel Interactor of LZTR1 Leading to Impaired P53 Signalling.

Journal: The Journal of clinical endocrinology and metabolism

Published: May 06, 2025

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

Journal: The Journal of clinical endocrinology and metabolism

Published: November 21, 2024

Approach to the Patient With Suspected Silver-Russell Syndrome.

Approach to the Patient With Suspected Silver-Russell Syndrome.

Journal: The Journal of clinical endocrinology and metabolism

Published: March 15, 2024

Characterization of Turner Syndrome-associated Diabetes Mellitus.

Characterization of Turner Syndrome-associated Diabetes Mellitus.

Journal: The Journal of clinical endocrinology and metabolism

Published: February 28, 2024

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental development.

Journal: Communications biology

Published: February 08, 2024

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction.

Journal: Nature communications

Published: September 01, 2023

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Journal: Frontiers in endocrinology

Published: May 22, 2023

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Journal: Frontiers in endocrinology

Published: May 26, 2022

Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.

Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo.

Journal: Nucleic acids research

Published: December 16, 2021

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.

Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiency.

Journal: JCI insight

Published: September 08, 2021

Showing 1-12 of 32

Last Updated: 09/26/2026