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  • 1-8 ل  8 نتائج ل ""Binquet, C""

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Collection : Universite De Bourgogne (Ub)
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Academic Journal

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting

Subjects: Cost analysis; Exome sequencing; Intellectual disability

  • Source: ISSN: 1472-6963 ; BMC Health Services Research ; https://univ-rennes.hal.science/hal-04164227 ; BMC Health Services Research, 2023, 23 (1), pp.386. ⟨10.1186/s12913-023-09373-z⟩.

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Academic Journal

Caractéristiques vasculaires rétiniennes : modifications lors du vieillissement et en pathologie vasculaire systémique (cardiaque et cérébrale) Retinal vascular network: description in elderly and pathological process

Subjects: imagerie rétinienne microcirculation maladie cardiovasculaire vieillissement étude de cohorte retinal imaging microcirculation cardiovascular disease aging process population-based study; imagerie rétinienne; microcirculation

  • Source: ISSN: 0181-5512.

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Academic Journal

Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

Subjects: genome sequencing; intellectual disability; cost-effectiveness

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://hal.science/hal-03610031 ; Frontiers in Genetics, 2022, 12, pp.766964. ⟨10.3389/fgene.2021.766964⟩.

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Academic Journal

A qualitative study of the perceptions and experiences of healthcare providers caring for critically ill patients during the first wave of the COVID-19 pandemic: A PsyCOVID-ICU substudy

Subjects: [SHS]Humanities and Social Sciences; [SCCO.PSYC]Cognitive science/Psychology; [SDV]Life Sciences [q-bio]

  • Source: ISSN: 1932-6203.

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Academic Journal

Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature

Subjects: Actionability; Literature review; Opinion based studies

  • Source: ISSN: 1769-7212 ; European Journal of Medical Genetics ; https://u-bourgogne.hal.science/hal-02058797 ; European Journal of Medical Genetics, In press, ⟨10.1016/j.ejmg.2018.08.010⟩ ;

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Academic Journal

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

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

  • Source: ISSN: 0009-9163.

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Academic Journal

The new Ghent criteria for Marfan syndrome: what do they change?

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Molecular biology

  • Source: ISSN: 0009-9163.

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Academic Journal

Pathogenic FBN1 mutations in 146 adults not meeting clinical diagnostic criteria for Marfan syndrome: Further delineation of type 1 fibrillinopathies and focus on patients with an isolated major criterion

Subjects: [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Molecular biology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 1552-4825.

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  • 1-8 ل  8 نتائج ل ""Binquet, C""