Lucia Bartoloni
Lausanne, VD 1011, Switzerland
Last Updated: 09/26/2026
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Found 9 publications
Transcriptome profiling of kisspeptin neurons from the mouse arcuate nucleus reveals new mechanisms in estrogenic control of fertility.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: June 28, 2022
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2022
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Journal: American journal of human genetics
Published: July 31, 2020
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 27, 2020
Cystic fibrosis carrier screening effects on birth prevalence and newborn screening.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 27, 2014
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Journal: American journal of human genetics
Published: March 28, 2013
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus.
Journal: European journal of human genetics : EJHG
Published: April 12, 2012
Showing 1-9 of 9
Last Updated: 09/26/2026