Suchergebnisse - "Martinez de Lapiscina, Idoia"

PubPharm (4)

1

Characterization of 35 novel NR5A1/SF-1 variants identified in individuals with atypical sexual development : The SF1next study

enthalten in: The Journal of clinical endocrinology and metabolism | 2024

von Naamneh Elzenaty, R. | Martinez de Lapiscina, I. | Kouri, C. | +69

2

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient

enthalten in: International journal of molecular sciences | 2024

von Rojas Velazquez, M. | Blanco, F. | Ayala-Lugo, A. | +7

3

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

enthalten in: EBioMedicine | 2024

von Kouri, C. | Sommer, G. | Martinez de Lapiscina, I. | +73

4

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

enthalten in: PloS one | 2023

von Martinez de Lapiscina, I. | Kouri, C. | Aurrekoetxea, J. | +15

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