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  • 1-10 ل  17 نتائج ل ""deep phenotyping""

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Collection : Inserm
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Academic Journal

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature

Subjects: tRNA synthetase deficiency; Infantile liver failure syndrome type 1; Pulmonary alveolar proteinosis

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://amu.hal.science/hal-03429594 ; European Journal of Medical Genetics, 2021, 64 (11), pp.104334. ⟨10.1016/j.ejmg.2021.104334⟩.

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Academic Journal

Deep phenotyping of an international series of patients with late‐onset dysferlinopathy

Subjects: LGMDR2; dysferlin; late onset

  • Source: ISSN: 1351-5101.

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Academic Journal

ProMetIS, deep phenotyping of mouse models by combined proteomics and metabolomics analysis

Subjects: Statistical analysis; bioinformatics; signal processing

  • Source: ISSN: 2052-4463.

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Academic Journal

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1098-3600.

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Academic Journal

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes

Subjects: [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1098-3600.

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Academic Journal

Subject‐specific segregation of functional territories based on deep phenotyping

Subjects: Functional Magnetic Resonance Imaging; cognitive function; brain imaging

  • Source: ISSN: 1065-9471.

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Academic Journal

Mass cytometry deep phenotyping of human mononuclear phagocytes and myeloid-derived suppressor cells from human blood and bone marrow

Subjects: CyTOF; Macrophages; MDSCs

  • Source: ISSN: 0741-5400 ; Journal of Leukocyte Biology ; https://univ-rennes.hal.science/hal-01579828 ; Journal of Leukocyte Biology, 2017, 102 (2), pp.437-447. ⟨10.1189/jlb.5MA1116-457R⟩.

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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

Phenotypic similarity for rare disease: ciliopathy diagnoses and subtyping

Subjects: Ciliopathies; Deep phenotyping; Rare disease

  • Source: ISSN: 1532-0464.

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Academic Journal

The Future of Diagnosis in Clinical Neurosciences: Comparing Multiple Sclerosis and Schizophrenia

Subjects: diagnosis; dimension; multiple sclerosis

  • Source: ISSN: 0924-9338.

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  • 1-10 ل  17 نتائج ل ""deep phenotyping""