Concepedia
Statistics
Publications
2
Citations
237
H-Index
Active since
2017
Affiliations
Inserm(Current)
Université Paris Cité
Sorbonne Paris Cité
Délégation Paris 5
Institut des Maladies Génétiques Imagine
Noëlle Lachaussée is an author at Inserm specializing in hereditary nephrotic syndrome, genetic disorders, and genetics.
Publications per year
2017–2018
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Svjetlana Lovric, Sara Gonçalves, Heon Yung Gee et al. · Journal of Clinical Investigation · 2017 · 208 citations · Full text
Medicine, Genetics, Molecular Genetics +17
A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies
Sara Gonçalves, Julie Patat, María Clara Guida et al. · PLoS Genetics · 2018 · 29 citations · Full text
Life Sciences, Genetics, Molecular Genetics +17
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