Alexia Boizot

Lausanne, VD, Switzerland

Last Updated: 09/26/2026

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Found 12 publications

Resting-state electroretinography reveals pathological retinal oscillations in retinitis pigmentosa mice and patients.

Resting-state electroretinography reveals pathological retinal oscillations in retinitis pigmentosa mice and patients.

Journal: Nature communications

Published: November 04, 2025

Clinical and genetic basis of congenital gonadotropin deficiency.

Clinical and genetic basis of congenital gonadotropin deficiency.

Journal: Human reproduction open

Published: September 27, 2025

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Pleiotropic genes linking congenital hypogonadotropic hypogonadism and cleft lip/palate: evidence from a genomic CHH cohort study.

Journal: European journal of human genetics : EJHG

Published: July 17, 2025

Multiomics unravels the complexity of male obesity: a prospective observational study.

Multiomics unravels the complexity of male obesity: a prospective observational study.

Journal: Journal of translational medicine

Published: September 13, 2024

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

Journal: BMC genomics

Published: October 23, 2023

Grape polyphenols decrease circulating branched chain amino acids in overfed adults.

Grape polyphenols decrease circulating branched chain amino acids in overfed adults.

Journal: Frontiers in nutrition

Published: July 19, 2022

Correction: Maximizing lentiviral vector gene transfer in the CNS.

Correction: Maximizing lentiviral vector gene transfer in the CNS.

Journal: Gene therapy

Published: April 13, 2022

Polyphenol Supplementation Did Not Affect Insulin Sensitivity and Fat Deposition During One-Month Overfeeding in Randomized Placebo-Controlled Trials in Men and in Women.

Polyphenol Supplementation Did Not Affect Insulin Sensitivity and Fat Deposition During One-Month Overfeeding in Randomized Placebo-Controlled Trials in Men and in Women.

Journal: Frontiers in nutrition

Published: January 13, 2022

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.

Journal: American journal of human genetics

Published: July 31, 2020

Maximizing lentiviral vector gene transfer in the CNS.

Maximizing lentiviral vector gene transfer in the CNS.

Journal: Gene therapy

Published: February 07, 2020

Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.

Sonic Hedgehog repression underlies gigaxonin mutation-induced motor deficits in giant axonal neuropathy.

Journal: The Journal of clinical investigation

Published: April 30, 2019

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.

Journal: Acta neuropathologica communications

Published: April 08, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026