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  • 1-10 of  71,293 نتائج ل ""Genetics""

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Publisher : hal ccsd فلترة بواسطة : موضوع
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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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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

Cerebral dural arteriovenous fistulas in patients with PTEN ‐related hamartoma tumor syndrome

Subjects: cancer genetics; cerebrovascular disorders; Cowden syndrome

  • Source: ISSN: 0009-9163.

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Academic Journal

Impact of the H274Y Substitution on N1, N4, N5, and N8 Neuraminidase Enzymatic Properties and Expression in Reverse Genetic Influenza A Viruses

Subjects: influenzaAviruses; group-1 neuraminidases; oseltamivir resistance

  • Source: ISSN: 1999-4915 ; Viruses ; https://anses.hal.science/anses-04549222 ; Viruses, 2024, 16 (3), pp.388. ⟨10.3390/v16030388⟩ ; https://www.mdpi.com/1999-4915/16/3/388.

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Academic Journal

Spicy food for the egg-cowries: the evolution of corallivory in the Ovulidae (Gastropoda: Cypraeoidea)

Subjects: Ovulidae; Cnidaria; trophic ecology

  • Source: ISSN: 2296-7745 ; Frontiers in Marine Science ; https://hal.science/hal-04549460 ; Frontiers in Marine Science, 2024, 10, pp.1323156. ⟨10.3389/fmars.2023.1323156⟩.

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Piecing the barcoding puzzle of Palearctic water frogs ( Pelophylax ) sheds light on amphibian biogeography and global invasions

Subjects: DNA barcoding; hybridogenesis; invasivealien species

  • Source: ISSN: 1354-1013.

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  • 1-10 of  71,293 نتائج ل ""Genetics""