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  • 1-10 of  43 نتائج ل ""Genetics""

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Publisher : hal ccsd Format : Non-Print Resources Subject : biotechnology Subject : genetics فلترة بواسطة : موضوع
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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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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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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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French multicentric cohort of PPFE : Description, prevalence and impact of a pathogenous variation in TRG

Subjects: Genetics; [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-04212401 ; European Respiratory Society, Sep 2023, Milan (Italie), Italy

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Efficacity and safety of CFTR modulators in patients with interstitial lung disease caused by ABCA3 transporter deficiency

Subjects: Treatments; Quality of life; GeneticsMilan (Italie); Italy

  • Source: European Respiratory Society ; https://inserm.hal.science/inserm-04213469 ; 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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Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.

Subjects: bronchiectasis; children; geneticsMilan (Italie); Italy

  • Source: european respiratory society ; https://inserm.hal.science/inserm-04210979 ; 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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French multicentric cohort of PPFE : Description, prevalence and impact of a pathogenous variation in TRG

Subjects: Genetics; [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-04212401 ; 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  43 نتائج ل ""Genetics""