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  • 1-10 ل  458 نتائج ل ""Phenotype""

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Collection : Universite Grenoble Alpes
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Conference

Assessing Differences in Articulatory-Acoustic Vowel Space in Parkinson's Disease by Sex and Phenotype

Subjects: Parkinson's Disease Phenotype Speech Acoustics Articulatory-Acoustic Vowel Space; Parkinson's Disease; PhenotypeAutrans; France

  • Source: Seminar on Speech Production (ISSP) ; https://hal.science/hal-04710563 ; Seminar on Speech Production (ISSP), May 2024, Autrans, France

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Academic Journal

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

Subjects: genotype–phenotype correlation; monosomy 1p36; chromosomal deletion

  • Source: ISSN: 1552-4825.

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Academic Journal

HBV and HBsAg strongly reshape the phenotype, function, and metabolism of DCs according to patients’ clinical stage

Subjects: antiviral immunity; CDC1s; cDC2s

  • Source: ISSN: 2471-254X.

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Academic Journal

Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype

Subjects: calcium channel; mutation; animal model

  • Source: ISSN: 2214-3599.

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Academic Journal

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene–phenotype reassessment in clinical routine

Subjects: ClinVar; Gene–phenotype associations; Sequencing reinterpretation

  • Source: ISSN: 1098-3600.

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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: Atypical phenotype-genotype associations; Myopathies; 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

CPAP Therapy Termination Rates by OSA Phenotype: A French Nationwide Database Analysis

Subjects: treatment; adherence; comorbidities

  • Source: ISSN: 2077-0383 ; Journal of Clinical Medicine ; https://hal.science/hal-03431729 ; Journal of Clinical Medicine, 2021, 10 (5), pp.936. ⟨10.3390/jcm10050936⟩.

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Academic Journal

Next generation phenotyping for diagnosis and phenotype–genotype correlations in Kabuki syndrome

Subjects: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

  • Source: ISSN: 2045-2322.

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Academic Journal

Correlation between plant cell wall stiffening and root extension arrest phenotype in the combined abiotic stress of Fe and Al

Subjects: atomic force microscopy (AFM); elasticity; nanoindentation

  • Source: ISSN: 0140-7791.

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Dissertation/ Thesis

TP53 mutations and Li Fraumeni syndrome : genotype-phenotypecorrelation and criteria for management of cancer surveillance ; Mutations de TP53 et syndrome de Li Fraumeni : corrélation génotype-phénotype et critères de décisions pour la surveillance

Subjects: Li Fraumeni syndrome; Tp53; Phenotype

  • Source: https://theses.hal.science/tel-05140917 ; Médecine humaine et pathologie. Université Grenoble Alpes [2020-.], 2024. Français. ⟨NNT : 2024GRALV087⟩.

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  • 1-10 ل  458 نتائج ل ""Phenotype""