Resources

Interleukin-15-Dependent T-Cell-like Innate Intraepithelial Lymphocytes Develop in the Intestine and Transform into Lymphomas in Celiac Disease.

Nadine CERF-BENSUSSAN

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De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development.

Jeanne Amiel, Stanislas Lyonnet, Patrick Nitschké, Chris Gordon

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Finding Patients Using Similarity Measures in a Rare Diseases-Oriented Clinical Data Warehouse: Dr. Warehouse and the Needle in the Needle Stack

Nicolas Garcelon

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Targeting mTOR Signaling Can Prevent the Progression of FSGS.

Amandine Viau

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A new 3p25 locus is associated with liver fibrosis progression in human immunodeficiency virus/hepatitis C virus-coinfected patients.

Laurent Abel

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Therapeutic effect of JAK1/2 blockade on the manifestations of hemophagocytic lymphohistiocytosis in mice.

Fernando Sepulveda , Geneviève de Saint Basile, Alain Fischer

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High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Metodi METODIEV, Arnold Munnich, Agnès Rötig

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Selective Substrates and Inhibitors for Kallikrein-Related Peptidase 7 (KLK7) Shed Light on KLK Proteolytic Activity in the Stratum Corneum.

Alain Hovnanian

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Gene-Corrected Fibroblast Therapy for Recessive Dystrophic Epidermolysis Bullosa using a Self-Inactivating COL7A1 Retroviral Vector.

Alain Hovnanian

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Reallocation of Olfactory Cajal-Retzius Cells Shapes Neocortex Architecture.

Alessandra Pierani

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Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché, Alain Fischer

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Autosomal Recessive Cardiomyopathy Presenting as Acute Myocarditis.

Jean-Laurent CASANOVA

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X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Marina Cavazzana, Chantal LAGRESLE-PEYROU, Aude Magerus, Frédéric Rieux-Laucat, Anne DURANDY, Sven KRACKER, Geneviève de Saint Basile, Alain Fischer, Marina Cavazzana, Isabelle André

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[Patterning of higher-order cortical areas is developmentally regulated by the distribution of Cajal-Retzius cells].

Alessandra Pierani

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Exome and genome sequencing for inborn errors of immunity.

Jean-Laurent CASANOVA

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