Kolexia
Steffann Julie Biologie médicale
Steffann Julie
Biologie médicale
Hôpital Necker Enfants Malades
Paris, France
119 Activités
136 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Maladies mitochondriales Incontinentia pigmenti Ichtyose Lissencéphalie Syndrome MELAS Prédisposition génétique à une maladie Syndrome MERRF Dystrophie myotonique Encéphalopathies

Collaborateurs

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Bonnefont Jean-Paul
Bonnefont Jean-Paul
Hôpital Necker Enfants Malades, Paris, France
Munnich Arnold
Munnich Arnold
Hôpital Américain de Paris, Neuilly-sur-Seine, France
Achour Nelly
Achour Nelly
Hôpital Antoine-Béclère, Clamart, France
Monnot Sophie
Monnot Sophie
Hôpital Necker Enfants Malades, Paris, France

Industries

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NEW ENGLAND BIOLABS FRANCE
1 collaboration(s)
Dernière en 2023
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Dernières activités

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What importance do donors and recipients attribute to the nuclear DNA-related genetic heritage of oocyte donation?
Human reproduction (Oxford, England)   28 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Can we rescue the developmental competence of 3PN zygotes ?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genetic heterogeneity and somatic mosaicism in Cornelia de Lange Syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
PGT and deferred embryo transfer: Is blastocyst biopsy more effective than cleaved embryo biopsy?
Journal of gynecology obstetrics and human reproduction   28 décembre 2023
Insights into the expanding intestinal phenotypic spectrum of SOCS1 haploinsufficiency and therapeutic options.
Journal of clinical immunology   09 mai 2023
Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience.
Journal of assisted reproduction and genetics   08 mai 2023
A shared pattern of altered gene expression in human embryos affected by mitochondrial diseases.
Human reproduction (Oxford, England)   03 mai 2023
MITODIAG: A French network of diagnostic laboratories for mitochondrial diseases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Preimplantation genetic testing of m.8344A>G MERRF mitochondrial DNA mutation: challenge and success
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023