Presentation
Laurence Heidet
Contact
Responsable du centre de référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA)
Resources & publications
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Journal (source)J. Allergy Clin. Immunol.PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies c...
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2019Journal (source)Oncotarget
Reduced recruitment of 53BP1 during interstrand crosslink repair is associate...
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2019Journal (source)Cell Death Differ.
PAXX and Xlf interplay revealed by impaired CNS development and immunodeficie...
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2019Journal (source)Blood
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2020Journal (source)Hum Mol Genet
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høy...
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Journal (source)Mol Ther Methods Clin Dev
Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene T...
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2021Journal (source)J Allergy Clin Immunol
Improving the diagnostic efficiency of primary immunodeficiencies with target...
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2015Journal (source)J Allergy Clin Immunol
An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ...
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2022Journal (source)Nat Commun
Base-editing-mediated dissection of a γ-globin cis-regulatory element for the...