List of works - Katie L Ayers - Paulina

List of works by Katie L Ayers

A Human Homozygous HELQ Missense Variant Does Not Cause Premature Ovarian Insufficiency in a Mouse Model

scientific article published on 4 March 2024

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development

scientific article published on 21 January 2020

Familial bilateral cryptorchidism is caused by recessive variants in RXFP2

scientific article published on 05 June 2019

Functional analysis of novel desert hedgehog gene variants improves the clinical interpretation of genomic data and provides a more accurate diagnosis for patients with 46,XY differences of sex development

scientific article published on 24 April 2019

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.

scientific article

Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency

scientific article published on 14 November 2022

NR5A1 gene variants repress the ovarian-specific WNT signalling pathway in 46,XX Disorders of sex development patients

scientific article published on 30 November 2018

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