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  • 1-10 ل  130 نتائج ل ""MESH: Genetic Testing""

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Academic Journal

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics

Subjects: MESH: Europe; MESH: Genetic Testing / ethics; MESH: Genetic Testing / standards

  • Source: ISSN: 1018-4813.

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Academic Journal

Clinical practice guidelines for BRCA1 and BRCA2 genetic testing

Subjects: BRCA-related cancer; BRCA1 and BRCA2 testing; Guidelines

  • Source: ISSN: 0959-8049 ; European Journal of Cancer ; https://hal.science/hal-03225540 ; European Journal of Cancer, 2021, 146, pp.30-47. ⟨10.1016/j.ejca.2020.12.023⟩.

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Academic Journal

Impact of a frequent nearsplice SOD1 variant in Amyotrophic Lateral Sclerosis: optimizing SOD1 genetic screening for gene therapy opportunities

Subjects: MESH: Adult; MESH: Aged; MESH: Genetic Therapy

  • Source: ISSN: 0022-3050.

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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

Mutation profile of glaucoma candidate genes in Mauritanian families with primary congenital glaucoma.

Subjects: MESH: Amino Acid Sequence; MESH: Base Sequence; MESH: Female

  • Source: ISSN: 1090-0535 ; Molecular Vision ; https://pasteur.hal.science/pasteur-03219621 ; Molecular Vision, 2021, 25, pp.373-381.

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Academic Journal

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Subjects: ACMG/AMP guidelines; Brugada; LQTS

  • Source: ISSN: 1098-3600.

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Academic Journal

Insufficient Evidence for “Autism-Specific” Genes

Subjects: MESH: Autism Spectrum Disorder; MESH: Cohort Studies; MESH: Genetic Testing

  • Source: ISSN: 0002-9297.

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Academic Journal

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

Subjects: CYP7B1; Hereditary spastic paraplegia; Hydroxycholesterols

  • Source: ISSN: 0022-510X ; Journal of the Neurological Sciences ; https://hal.sorbonne-universite.fr/hal-03229666 ; Journal of the Neurological Sciences, 2020, 419, pp.117211.

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Academic Journal

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics

Subjects: MESH: Duty to Recontact; MESH: European Union; MESH: Societies

  • Source: ISSN: 1018-4813.

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Academic Journal

Identification of novel pathogenic MSH2 mutation and new DNA repair genes variants: investigation of a Tunisian Lynch syndrome family with discordant twins

Subjects: CRC; Lynch syndrome I; MMR genes

  • Source: EISSN: 1479-5876 ; Journal of Translational Medicine ; https://riip.hal.science/pasteur-03097722 ; Journal of Translational Medicine, 2019, 17 (1), pp.212. ⟨10.1186/s12967-019-1961-9⟩

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  • 1-10 ل  130 نتائج ل ""MESH: Genetic Testing""