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النتائج لكل صفحة: 10
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  • 1-7 ل  7 نتائج ل ""penetrance""

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Collection : Universite De Bourgogne (Ub)
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Academic Journal

Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant

Subjects: Ataxia; CACNA1A; Epileptic encephalopathy

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://u-bourgogne.hal.science/hal-01952641 ; European Journal of Medical Genetics, 2019, 62 (6), ⟨10.1016/j.ejmg.2018.08.011⟩ ;

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Academic Journal

Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes

Subjects: [SDV]Life Sciences [q-bio]; [STAT]Statistics [stat]

  • Source: ISSN: 1756-994X ; Genome Medicine ; https://hal.science/hal-03971905 ; Genome Medicine, 2022, 14 (1), pp.69. ⟨10.1186/s13073-022-01070-6⟩.

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Academic Journal

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population

Subjects: Multiple Endocrine Neoplasia; Mutation Analysis; Neuroendocrine tumors

  • Source: ISSN: 0021-972X.

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Academic Journal

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: A 7-year national survey

Subjects: ethical issues; incidental findings; pre-test information

  • Source: ISSN: 0009-9163.

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Academic Journal

Characterization of Two Mouse Chd7 Heterozygous Loss-of-Function Models Shows Dysgenesis of the Corpus Callosum and Previously Unreported Features of CHARGE Syndrome

Subjects: neurodevelopmental disorders; CHARGE syndrome; dysgenesis of the corpus callosum

  • Source: ISSN: 1661-6596.

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Academic Journal

One NF1 Mutation may Conceal Another

Subjects: neurofibromatosis type 1; Legius syndrome; NF1

  • Source: ISSN: 2073-4425 ; Genes ; https://hal.science/hal-02436873 ; Genes, 2019, 10 (9), pp.633. ⟨10.3390/genes10090633⟩.

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Academic Journal

Exploratory case study of monozygotic twins with 22q11.2DS provides further clues to circumscribe neurocognitive markers of psychotic symptoms

Subjects: 22q11.2ds; endophenotype; psychotic symptoms

  • Source: ISSN: 2213-1582 ; Neuroimage-Clinical ; https://hal.science/hal-02275563 ; Neuroimage-Clinical, 2019, 24, pp.101987. ⟨10.1016/j.nicl.2019.101987⟩ ;

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  • 1-7 ل  7 نتائج ل ""penetrance""