Kolexia
Nectoux Juliette Pharmacien
Nectoux Juliette
Pharmacien
Hôpital Cochin
Paris, France
98 Activités
485 Followers
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{{person.topmesh1.name}} Maladies musculaires Syndrome de Rett Dystrophies musculaires Neurofibromatoses Dystrophies musculaires des ceintures Mucoviscidose Myopathie de Duchenne Vascularite Aneuploïdie

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Bienvenu Thierry
Bienvenu Thierry
Hôpital Cochin, Paris, France
Leturcq France
Leturcq France
Hôpital Cochin, Paris, France
Eymard Bruno
Eymard Bruno
Hôpital Pitie Salpetriere, Paris, France
Romero Norma Beatriz
Romero Norma Beatriz
Hôpital Pitie Salpetriere, Paris, France

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SESC
1 collaboration(s)
Dernière en 2019
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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
Phenotypic variability in Tunisian LGMDR1 patients harboring c.1194-9A>G splicing mutation
Abstracts from the World Congress of Neurology (WCN 2023)   01 décembre 2023
Droplet digital PCR for fast and accurate characterization of NF1 locus deletions: confirmation of the predominant maternal origin of type-1 deletions.
The Journal of molecular diagnostics : JMD   24 novembre 2023
Association Between Plasma Rituximab Concentration and the Risk of Major Relapse in Antineutrophil Cytoplasmic Antibody-Associated Vasculitides During Rituximab Maintenance Therapy.
Arthritis & rheumatology (Hoboken, N.J.)   13 août 2023
Towards a generalization of non-invasive prenatal diagnosis of single-gene disorders? Assesment and outlook.
Gynecologie, obstetrique, fertilite & senologie   28 juillet 2023
Application of droplet digital PCR to the molecular characterization of recurrent deletions of the NF1 locus
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 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
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