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  • 1-10 ل  1,788 نتائج ل ""MESH: Phenotype""

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Academic Journal

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

Subjects: exome sequencing; genetic diseases; inborn

  • Source: ISSN: 0022-2593.

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Academic Journal

Genetic parameters, genome-wide association study, and selection perspective on gestation length in 16 French cattle breeds

Subjects: gestation length; cattle; genetic parameters

  • Source: ISSN: 0022-0302.

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Academic Journal

Myeloid cell-specific deletion of AMPKα1 worsens ocular bacterial infection by skewing macrophage phenotypes

Subjects: Eye; Endophthalmitis; S. aureus

  • Source: ISSN: 0022-1767.

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Academic Journal

An Integrated Pipeline for Phenotypic Characterization, Clustering and Visualization of Patient Cohorts in a Rare Disease-Oriented Clinical Data Warehouse

Subjects: Clustering; Electronic health record; Rare disease

  • Source: ISSN: 0926-9630.

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Academic Journal

Dysfunction of specific auditory fibers impacts cortical oscillations, driving an autism phenotype despite near‐normal hearing

Subjects: BDNF; GABAergic interneurons; auditory nerve fibers

  • Source: ISSN: 0892-6638.

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Academic Journal

Blood Monocyte Phenotype Is A Marker of Cardiovascular Risk in Type 2 Diabetes

Subjects: cardiovascular risk,inflammation,metabolism,monocytes,transcriptomic; MESH: Calcium / metabolism; MESH: Cardiovascular Diseases* / diagnosis

  • Source: ISSN: 0009-7330.

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Academic Journal

Phenotypes and outcome of diffuse pulmonary non-amyloid light chain deposition disease

Subjects: Bronchiectasis; Light chain deposition disease; Lung cysts

  • Source: ISSN: 1465-9921 ; Respiratory Research ; https://u-paris.hal.science/hal-04598585 ; Respiratory Research, 2024, 25 (1), pp.159. ⟨10.1186/s12931-024-02798-y⟩ ;

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Academic Journal

MANOCCA: a robust and computationally efficient test of covariance in high-dimension multivariate omics data

Subjects: biomarkers; correlation; covariance

  • Source: ISSN: 1467-5463.

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Academic Journal

Next-Gen GWAS: full 2D epistatic interaction maps retrieve part of missing heritability and improve phenotypic prediction

Subjects: MESH: Genome-Wide Association Study; MESH: Epistasis; Genetic

  • Source: ISSN: 1465-6906.

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Academic Journal

USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids

Subjects: USH2A; Usher Syndrome; Usherin

  • Source: EISSN: 2666-2477 ; Human Genetics and Genomics Advances ; https://hal.science/hal-04597979 ; Human Genetics and Genomics Advances, 2023, 4 (4), pp.100229. ⟨10.1016/j.xhgg.2023.100229⟩

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  • 1-10 ل  1,788 نتائج ل ""MESH: Phenotype""