Marie-jose J. Perez
Montpellier, France
Last Updated: 09/26/2026
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Found 12 publications
Dispersive Liquid-Liquid Microextraction for the Quantitation of Terpenes in Wine.
Journal: Journal of agricultural and food chemistry
Published: March 17, 2020
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.
Journal: Journal of medical genetics
Published: February 24, 2020
Re-focusing on Agnathia-Otocephaly complex.
Journal: Clinical oral investigations
Published: August 28, 2019
Risk factors of clinical dysimmune manifestations in a cohort of 86 children with 22q11.2 deletion syndrome: A retrospective study in France.
Journal: American journal of medical genetics. Part A
Published: April 04, 2019
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Journal: Clinical genetics
Published: January 14, 2016
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: October 11, 2014
A balance between activating and repressive histone modifications regulates cystic fibrosis transmembrane conductance regulator (CFTR) expression in vivo.
Journal: Epigenetics
Published: May 01, 2014
Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans.
Journal: American journal of human genetics
Published: November 21, 2013
Metabolic responses of Saccharomyces cerevisiae to valine and ammonium pulses during four-stage continuous wine fermentations.
Journal: Applied and environmental microbiology
Published: February 19, 2013
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
Journal: Journal of medical genetics
Published: October 02, 2012
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
Journal: Journal of medical genetics
Published: April 14, 2012
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Journal: Brain : a journal of neurology
Published: February 11, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026