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  • 1-10 ل  272 نتائج ل ""MESH: Phenotype""

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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

Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity

Subjects: latitude; melanocortin 1 receptor; multiple sclerosis

  • Source: ISSN: 0027-8424.

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Academic Journal

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Subjects: Inter-individual variability; Deep phenotyping; Next generation sequencing

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-03314914 ; Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩.

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Academic Journal

Powerful gene-based testing by integrating long-range chromatin interactions and knockoff genotypes

Subjects: GWAS and whole-genome sequencing; fine-mapping; gene-based association tests

  • Source: ISSN: 0027-8424.

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Academic Journal

Melanocortin‐1 receptor ( MC1R ) genotypes do not correlate with size in two cohorts of medium‐to‐giant congenital melanocytic nevi

Subjects: population; phenotype; nevogenesis

  • Source: Pigment Cell & melanoma research ; https://hal.science/hal-03609329 ; Pigment Cell & melanoma research, 2020, 33 (5), pp.685-694. ⟨10.1111/pcmr.12883⟩

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Academic Journal

De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay

Subjects: MESH: Developmental Disabilities; MESH: Facies; MESH: Mutation

  • Source: ISSN: 1553-7390.

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Academic Journal

Variants in the non-coding region of the TLR2 gene associated with infectious subphenotypes in pediatric sickle cell anemia

Subjects: Genetic variants; Genotype-to-phenotype association; Hemolytic component

  • Source: ISSN: 0093-7711.

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Academic Journal

Generation and CRISPR/Cas9 editing of transformed progenitor B cells as a pseudo-physiological system to study DNA repair gene function in V(D)J recombination

Subjects: CRISPR/Cas9-mediated gene knock-out; Nonhomologous end joining (NHEJ); Recombination-activating gene (RAG) endonuclease

  • Source: ISSN: 0022-1759 ; Journal of Immunological Methods ; https://pasteur.hal.science/pasteur-03271165 ; Journal of Immunological Methods, 2017, 451, pp.71-77. ⟨10.1016/j.jim.2017.08.007⟩.

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Academic Journal

Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients

Subjects: MESH: Crohn Disease/blood; MESH: Crohn Disease/genetics; MESH: Nuchal Cord

  • Source: ISSN: 2045-2322.

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Dissertation/ Thesis

Characterization of TRIO variants of uncertain significance involved in neurodevelopmental disorders

Subjects: TRIO; Variants of Unknown Signification (VUS); Functional impact

  • Source: https://dumas.ccsd.cnrs.fr/dumas-04007860 ; Human health and pathology. 2022.

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  • 1-10 ل  272 نتائج ل ""MESH: Phenotype""