Concepedia

Chrysanthi Kouri

CK

Statistics

Publications

3

Citations

60

H-Index

3

Active since

2023

Affiliations

Centre for Biomedical Network Research on Rare Diseases(Current)

Instituto de Salud Carlos III

Instituto de Investigación de Enfermedades Raras

BioCruces Health research Institute

University Hospital of Bern

Chrysanthi Kouri is an author at Centre for Biomedical Network Research on Rare Diseases specializing in molecular genetics, reproductive endocrinology, and rare disease genetics.

ORCID

Publications per year

2023–2024

3

Publications

3

Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

Chrysanthi Kouri, Grit Sommer, Idoia Martinez de la Piscina et al. · EBioMedicine · 2024 · 38 citations · Full text

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Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

Idoia Martinez de la Piscina, Chrysanthi Kouri, Josu Aurrekoetxea et al. · PLoS ONE · 2023 · 12 citations · Full text

, , +17

Characterization of 35 Novel <i>NR5A1</i>/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study

Rawda Naamneh Elzenaty, Idoia Martinez de la Piscina, Chrysanthi Kouri et al. · The Journal of Clinical Endocrinology & Metabolism · 2024 · 10 citations · Full text

, , +17

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