Kolexia
Bienvenu Thierry Pharmacien
Bienvenu Thierry
Pharmacien
Hôpital Cochin
Paris, France
168 Activités
118 Followers
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{{person.topmesh1.name}} Déficience intellectuelle Mucoviscidose Syndrome de Rett Encéphalopathies Fibrose Prédisposition génétique à une maladie Épilepsie Spasmes infantiles Pancréatite

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Girodon-Boulandet Emmanuelle
Girodon-Boulandet Emmanuelle
Hôpital Cochin, Paris, France
Nectoux Juliette
Nectoux Juliette
Hôpital Cochin, Paris, France
Bahi Nadia
Bahi Nadia
Hôpital Necker Enfants Malades, Paris, France
Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France

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Dernières activités

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DANNIgene: Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Essai Clinique (Assistance publique – Hôpitaux de Paris)   26 février 2024
The value of plasma cell-free DNA levels as biomarker in patients with eating disorders: A preliminary study.
Psychoneuroendocrinology   06 décembre 2023
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
NOBOX gene variants in premature ovarian insufficiency: ethnicity-dependent insights.
Journal of assisted reproduction and genetics   03 novembre 2023
Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization.
Biological psychiatry   11 septembre 2023
Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook.
Gynecologie, obstetrique, fertilite & senologie   28 juillet 2023
Non-invasive prenatal diagnosis of monogenic diseases by enhanced relative haplotype dosage analysis
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
A novel, recurrent TCF4 missense variant causes non-specific intellectual disability without Pitt-Hopkins syndrome
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation.
PloS one   24 avril 2023
A systematic literature review and meta-analysis of circulating nucleic acids as biomarkers in psychiatry.
Progress in neuro-psychopharmacology & biological psychiatry   15 avril 2023