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  • 1-10 ل  6,025 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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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 immunityBerlin (Germany); Germany

  • Source: European Society of Human Genetics ; https://inserm.hal.science/inserm-04674708 ; European Society of Human

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Conference

Late-onset expression of an autoinflammatory disease: Identification and functional characterization of a mosaic variant in NLRC4

Subjects: CARD; caspase recruitment domain CRP; C-reactive protein EVBerlin (Germany); Germany

  • Source: European Society of Human Genetics ; https://inserm.hal.science/inserm-04674678 ; European Society of Human

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Conference

Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia

Subjects: Primary Ciliary Dyskinesia; X-linked disease; skewed X inactivationBerlin (DE); Germany

  • Source: The European Society of Human Genetics ; https://inserm.hal.science/inserm-04614713 ; The European Society of

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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

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

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

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

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

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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Academic Journal

Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits

Subjects: Craniosynostosis; DLX6 DLX5; GWAS

  • Source: ISSN: 2949-7744 ; Genetics in Medicine Open ; https://hal.science/hal-04677511 ; Genetics in Medicine Open, 2024, 2, pp.101851.

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  • 1-10 ل  6,025 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""