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  • 1-10 of  303 نتائج ل ""Amselem, Serge""

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Publisher : hal ccsd فلترة بواسطة : مؤلف
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Conference

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis ; Mutation hypomorphe de SFTPB associée à des fibroses pulmonaires viables à l’âge adulte

Subjects: Maladies orphelines; Maladies rares; Maladies génétiquesFranceLille (France), France

  • Source: Congrès de Pneumologie de Langue Française ; https://inserm.hal.science/inserm-04423950 ; Congrès de Pneumologie de Langue Française, Jan 2024, Lille (France), France

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Conference

SP-A restaure l’oligomérisation et la sécrétion de mutants de SFTPA1 et SFTPA2

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractParis; France

  • Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04405049 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Conference

Autoinflammatory Diseases: Germline vs. Somatic Mosaic Variations

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunityParis; France

  • Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04412198 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Conference

Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4 ; Expression tardive d’une maladie autoinflammatoire : identification et caractérisation fonctionnelle d’une variation de NLRC4 en mosaïque

Subjects: Maladie autoinflammatoire; immunité; mosaïcismeParis; France

  • Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04405530 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Conference

Inflammasome activation and inflammation in Epidermolysis bullosa ; Inflammasomes et épidermolyse bulleuse

Subjects: Epidermolyse bullose; inflammasomes; keratinocytesParis; France

  • Source: Assises de Génétique Humaine et Médicale ; https://inserm.hal.science/inserm-04412170 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Academic Journal

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Subjects: ABCA3; SFTPC; adults

  • Source: ISSN: 1323-7799.

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Conference

Phenotypic characterization of interstitial lung disease associated with mutations inSFTPC and ABCA3 in adults

Subjects: Orphan Diseases; Mutations; [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tractMilan (Italie); Italy

  • Source: European respiratory Society ; https://inserm.hal.science/inserm-04218447 ; European respiratory Society, Sep 2023, Milan (Italie), Italy

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Hypomorphic mutation in SFTPB leads to adult pulmonary fibrosis

Subjects: [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsMilan (Italie); Italy

  • Source: European Respiratory Society ; https://inserm.hal.science/inserm-04208358 ; European Respiratory Society, Sep 2023, Milan (Italie), Italy

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Conference

Necroptosis study in an epithelial in vitro model expressing surfactant protein A1

Subjects: idiopathic pulmonary fibrosis; genetics; mutationsMilan (Italie); Italy

  • Source: European Respiratory Society ; https://inserm.hal.science/inserm-04212128 ; European Respiratory Society, Sep 2023, Milan (Italie), Italy

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Academic Journal

A critical region of A20 unveiled by missense TNFAIP3 variations that lead to autoinflammation

Subjects: A20; A20 haploinsufficiency; TNFAIP3

  • Source: EISSN: 2050-084X ; eLife ; https://inserm.hal.science/inserm-04148971 ; eLife, 2023, 12, pp.e81280. ⟨10.7554/eLife.81280⟩

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  • 1-10 of  303 نتائج ل ""Amselem, Serge""