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  • 1-10 ل  10 نتائج ل ""Whole Genome Sequencing""

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Collection : Universite De Bourgogne (Ub)
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Academic Journal

The economic, medical and psychosocial consequences of whole genome sequencing for the genetic diagnosis of patients with intellectual disability: The DEFIDIAG study protocol

Subjects: cost-effectiveness; genome sequencing; intellectual disability

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://amu.hal.science/hal-03678712 ; Frontiers in Genetics, 2022, 13, pp.852472. ⟨10.3389/fgene.2022.852472⟩.

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Academic Journal

Whole-genome sequencing highlights conservative genomic strategies of a stress-tolerant, long-lived scleractinian coral, Porites australiensis Vaughan, 1918

Subjects: Porites; gene duplication; gene expression

  • Source: ISSN: 1759-6653.

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Academic Journal

Whole-Genome Sequencing and Annotation of Clostridium tyrobutyricum Strain Cirm BIA 2237, Isolated from Silage

Subjects: Clostridium tyrobutyricum; CNRZ 608; [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition

  • Source: EISSN: 2576-098X ; Microbiology Resource Announcements ; https://u-bourgogne.hal.science/hal-02310653 ; Microbiology Resource Announcements, 2019, 8 (30), pp.1-2. ⟨10.1128/MRA.00492-19⟩

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Academic Journal

Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia

Subjects: autosomal dominant hypercholesterolemia; CYP7A1; LDL uptake

  • Source: ISSN: 2218-1989 ; Metabolites ; https://hal.science/hal-03642664 ; Metabolites, 2022, 12 (3), pp.262. ⟨10.3390/metabo12030262⟩.

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Academic Journal

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Subjects: ANKRD11; Genotype–phenotype study; KBG syndrome

  • Source: ISSN: 1098-3600.

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Academic Journal

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Subjects: ANKRD11; Genotype–phenotype study; KBG syndrome

  • Source: ISSN: 1098-3600.

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Academic Journal

The ZKIR assay, a novel real-time PCR method for the detection of Klebsiella pneumoniae and closely related species in environmental Samples

Subjects: Detection; Soil; Phylogroup

  • Source: ISSN: 0099-2240.

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Academic Journal

The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability

Subjects: Cytogenetics; Medical genetics; Neurodevelopmental disorders

  • Source: ISSN: 1018-4813.

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Academic Journal

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology; [SDV.BDD.EO]Life Sciences [q-bio]/Development Biology/Embryology and Organogenesis

  • Source: ISSN: 2041-1723.

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Academic Journal

WES/WGS Reporting of Mutations from Cardiovascular 'Actionable' Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

Subjects: ExAC; thoracic aortic-aneurysms; mutations

  • Source: ISSN: 1059-7794 ; EISSN: 1098-1004 ; Human Mutation.

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  • 1-10 ل  10 نتائج ل ""Whole Genome Sequencing""