Publications by authors named "Magali Avila"

Claim this Profile
mutations in the X-linked gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.
Daphné Lehalle, Pierre Vabres, Arthur Sorlin, Tatjana Bierhals, Magali Avila

J Med Genet· December 2020

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
L
Lysosomal Signaling Licenses Embryonic Stem Cell Differentiation via Inactivation of Tfe3.
Florian Villegas, Daphné Lehalle, Daniela Mayer, Melanie Rittirsch, Michael B Stadler, Magali Avila

Cell Stem Cell· February 2019

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
H
Heterozygous deletion of the LRFN2 gene is associated with working memory deficits.
Julien Thevenon, Céline Souchay, Gail K Seabold, Inna Dygai-Cochet, Patrick Callier, Magali Avila

Eur J Hum Genet· June 2016

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
C
C5orf42 is the major gene responsible for OFD syndrome type VI.
Estelle Lopez, Christel Thauvin-Robinet, Bruno Reversade, Nadia El Khartoufi, Louise Devisme, Magali Avila

Hum Genet· March 2014

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
D
Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene.
Magali Avila, Maria Kirchhoff, Nathalie Marle, Hanna D Hove, Mondher Chouchane

Am J Med Genet A· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis
P
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Christel Thauvin-Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila

Am J Hum Genet· July 2013

Social Media Activity not collected for this article yet.

Sign Up to Request Social Media Analysis