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  • 1-10 of  226 نتائج ل ""Nathan, Nadia""

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Publisher : hal ccsd Publisher : society for molecular biology and evolution 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

Dysplasie acineuse associée à un variant de NKX2.1 chez un nouveau-né à terme

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-04412720 ; Assises de Génétique Humaine et Médicale, Jan 2024, Paris, France

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Academic Journal

A roadmap to precision treatments for familial pulmonary fibrosis

Subjects: Familial pulmonary fibrosis; Interstitial lung disease of genetic cause; precision medicine

  • Source: ISSN: 2352-3964 ; EBioMedicine ; https://hal.science/hal-04592375 ; EBioMedicine, 2024, 104, pp.105135. ⟨10.1016/j.ebiom.2024.105135⟩ ;

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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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Academic Journal

Lung biopsies in infants and children in critical care situation

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 tract

  • Source: ISSN: 8755-6863.

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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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Conference

The value of multidisciplinary team meetings MDTm ) in the diagnosis and management of childhood interstitial lung disease (chILD) among the RespiRare network

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 tractMilan (Italie); Italy

  • Source: European Respiratory society ; https://inserm.hal.science/inserm-04208180 ; European Respiratory society, Sep 2023, Milan (Italie), Italy

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Conference

Clinical problems in rare interstitial lung diseases

Subjects: chronic deseases; children; DiagnosisMilan (Italie); Italy

  • Source: European Respiratory Society ; https://inserm.hal.science/inserm-04220204 ; European Respiratory Society, Sep 2023, Milan (Italie), Italy

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Conference

Phenotype-genotype correlations of pediatric patients with biallelic mutations in ABCA3 and SFTPB surfactant-related genes

Subjects: Children; genetics; mutationsMilan (Italie); Italy

  • Source: European Respiratory Society ; https://inserm.hal.science/inserm-04212335 ; European Respiratory Society, Sep 2023, Milan (Italie), Italy

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  • 1-10 of  226 نتائج ل ""Nathan, Nadia""