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  • 1-10 ل  101 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Collection : Normandie Universite
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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

Primary mitochondrial disorders and mimics: Insights from a large French cohort

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]; [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

  • Source: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.science/hal-04569049 ; Annals of Clinical and Translational Neurology, In press, ⟨10.1002/acn3.52062⟩

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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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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

Quantitative expression assay of GNAS gene: a reliable functional analysis in various clinical and molecular situations

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsGlasgow; United Kingdom

  • Source: European Human Genetics Conference 2023 ; https://hal.science/hal-04345466 ; European Human

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Academic Journal

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Subjects: 1p36 deletion syndrome; chromosomal deletion; genotype–phenotype correlation

  • Source: ISSN: 1552-4825.

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Academic Journal

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Subjects: RNA-seq; clinical diagnoses; genome sequencing

  • Source: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://univ-rennes.hal.science/hal-04067649 ; Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920.

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Academic Journal

Identification of predictive criteria for pathogenic variants of primary bilateral macronodular adrenal hyperplasia (PBMAH) gene ARMC5 in 352 unselected patients

Subjects: Primary Bilateral Macronodular Adrenal Hyperplasia; PBMAH; adrenal tumors

  • Source: ISSN: 0804-4643.

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Academic Journal

Next generation sequencing for personalized therapy: About a class III BRAF N581K mutation associated to NRAS Q61L mutation in malignant melanoma: Case report

Subjects: Melanoma; BRAF; NRAS

  • Source: ISSN: 2405-8440 ; Heliyon ; https://normandie-univ.hal.science/hal-04182927 ; Heliyon, 2023, 9, pp.e18420. ⟨10.1016/j.heliyon.2023.e18420⟩.

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Academic Journal

Longitudinal head-to-head comparison of 11C-PiB and 18F-florbetapir PET in a Phase 2/3 clinical trial of anti-amyloid-β monoclonal antibodies in dominantly inherited Alzheimer’s disease

Subjects: Pittsburgh compound B 18 F-florbetapir gantenerumab dominantly inherited Alzheimer disease confidence interval); SD (standard deviation); Pittsburgh compound B

  • Source: ISSN: 1619-7070.

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  • 1-10 ل  101 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""