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A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency.

artículo científico publicado en 2017

A missense in HSF2BP causing Primary Ovarian Insufficiency affects meiotic recombination by its novel interactor C19ORF57/BRME1

scientific article published on 26 August 2020

A novel variant of DHH in a familial case of 46,XY disorder of sex development: Insights from molecular dynamics simulations.

artículo científico publicado en 2017

An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes

artículo científico publicado en 2020

Causes and effects of haploinsufficiency

scientific article published on 31 May 2019

Clinical Genetics paving the way to the future

artículo científico publicado en 2020

DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation

artículo científico publicado en 2020

Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes

scientific article published on 28 January 2019

High-throughput Exploration of the Network Dependent on AKT1 in Mouse Ovarian Granulosa Cells

scientific article published on 16 April 2019

Insights into the loss of the Y chromosome with age in control individuals and in patients with age-related macular degeneration using genotyping microarray data

artículo científico publicado en 2019

Mechanisms of Mendelian dominance.

artículo científico publicado en 2017

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

scientific journal article

On the loss of human sex chromosomes in lymphocytes with age: a quantitative treatment

artículo científico publicado en 2018

One Hundred Years of Gene Balance: How Stoichiometric Issues Affect Gene Expression, Genome Evolution, and Quantitative Traits

artículo científico publicado en 2021

Three-dimensional genome architecture in health and disease.

artículo científico publicado en 2018