Resources

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement.

Olivier Pellé, Michel Polak, Nathalie Boddaert, Nadia Bahi-Buisson, Jean-Michel Rozet

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FGFR3 in Periosteal Cells Drives Cartilage-to-Bone Transformation in Bone Repair.

Caroline Carvalho, Laurence Legeai-Mallet

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Novel therapeutic approaches for the treatment of achondroplasia.

Laurence Legeai-Mallet

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Cell-ID: gene signature extraction and cell identity recognition at individual cell levelation

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Donor-targeted serotherapy as a rescue therapy for steroid-resistant acute GVHD after HLA-mismatched kidney transplantation.

Julien ZUBER, Olivia Boyer, Bénédicte Neven, Romain Levy, Baptiste LAMARTHÉE, Michael Dussiot, Isabelle André, Marina Cavazzana

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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa.

Asma Smahi, Hervé Bachelez

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Anti-Saccharomyces cerevisiae IgG and IgA antibodies are associated with systemic inflammation and advanced disease in hidradenitis suppurativa.

Florence Assan , Asma Smahi, Hervé Bachelez

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From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine Deaminase Deficiency: Unraveling an Inherited Immunodeficiency after 50 Years.

Loïc CHENTOUT, Bertrand Boisson, Aurore POULIET, Anne DURANDY, Jean-Laurent CASANOVA , Sven KRACKER

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Intraflagellar Transport Complex B Proteins Regulate the Hippo Effector Yap1 during Cardiogenesis.

Laurent GUILLEMOT, Sigolène Meilhac

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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Impaired type I interferon activity and inflammatory responses in severe COVID-19 patients.

Jérome Hadjadj, Laura BARNABEI, Alain Fischer, Frédéric Rieux-Laucat

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Generation of an induced pluripotent stem cell (iPSC) line (IMAGINi007) from a patient with steroid-resistant nephrotic syndrome carrying the homozygous p.R138Q mutation in the podocin-encoding NPHS2 gene.

Giulia Menara, Nathalie Lefort, Corinne Antignac, Géraldine Mollet

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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.

Clémantine Dimartino, Mélanie Parisot, Patrick Nitschké, Véronique Pingault, Arnold Munnich, Valérie Cormier-Daire, Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

Olivier Gribouval, Christelle Arrondel, Géraldine Mollet, Guillaume Dorval, Corinne Antignac

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DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma and autoimmunity.

Sylvain Latour

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