Kolexia
Molina Gomes Denise
Génétique médicale
Chi Poissy St Germain Site De Poissy
Poissy, France
46 Activités
201 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Aberrations des chromosomes Délétion de segment de chromosome Duplication chromosomique Malformations multiples Translocation génétique Maladies chromosomiques Aneuploïdie Syndrome de DiGeorge Cardiopathies congénitales

Industries

AstraZeneca
3 collaboration(s)
Dernière en 2023
{{person.topindus2.name}}
{{person.topindus2.tot}} collaboration(s)
Dernière en {{person.topindus2.last}}
{{person.topindus3.name}}
{{person.topindus3.tot}} collaboration(s)
Dernière en {{person.topindus3.last}}
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene.
American journal of medical genetics. Part A   21 novembre 2023
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.
Human reproduction (Oxford, England)   02 juin 2022
Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.
Journal of the Endocrine Society   01 mars 2021
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations.
European journal of medical genetics   19 mai 2020
Are leptin and adiponectin involved in recurrent pregnancy loss?
The journal of obstetrics and gynaecology research   14 mars 2018
Insuffisance ovarienne prématurée : analyse génétique par next generation sequencing (NGS) chez 288 patientes
34ème Congrès de la Société Française d’Endocrinologie SFE Poitiers 2017   01 septembre 2017
Does the prevalence of recurrent pathogenic microdeletions and microdoublements in prenatal diagnosis lead to a reassessment of the evolution of non-invasive screening techniques? The example of region 22q11.2.
Gynecologie, obstetrique, fertilite & senologie   18 janvier 2017
The emerging microduplication 3q13.31: Expanding the genotype-phenotype correlations of the reciprocal microdeletion 3q13.31 syndrome.
European journal of medical genetics   26 août 2016
Are de novo rea(21;21) chromosomes really de novo?
Clinical case reports   26 août 2015
Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Prenatal diagnosis   24 juin 2015