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  • 1-10 ل  45 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Collection : Hal Universite Cote D'azur
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Academic Journal

Ancient DNA sheds light on the funerary practices of late Neolithic collective burial in southern France

Subjects: [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory

  • Source: ISSN: 0962-8452 ; EISSN: 1471-2954.

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Academic Journal

Primary mitochondrial disorders and mimics: Insights from a large French cohort

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]; [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism

  • Source: EISSN: 2328-9503 ; Annals of Clinical and Translational Neurology ; https://hal.science/hal-04569049 ; Annals of Clinical and Translational Neurology, In press, Online ahead of print.

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Academic Journal

Locus-level L1 DNA methylation profiling reveals the epigenetic and transcriptional interplay between L1s and their integration sites

Subjects: LINE-1; transposable elements; transposon

  • Source: ISSN: 2666-979X ; Cell Genomics ; https://hal.science/hal-04462176 ; Cell Genomics, 2024, 4 (2), pp.100498. ⟨10.1016/j.xgen.2024.100498⟩.

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Comprehensive locus-specific L1 DNA methylation profiling reveals the epigenetic and transcriptional interplay between L1s and their integration sites

Subjects: LINE-1; L1; transposable elements

  • Source: https://hal.science/hal-04245960 ; 2024.

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Academic Journal

Double Trouble Mutations Underlie Mitochondrial Dynamics Disorders in a Severe Form of Charcot-Marie-Tooth Disease

Subjects: MFN2; CMT2A; PMP22

  • Source: ISSN: 2642-9128 ; Journal of Biotechnology and Biomedicine ; https://hal.science/hal-04275405 ; Journal of Biotechnology and Biomedicine, 2023, 06 (04), pp.468-475.

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Academic Journal

Gain of function SCN1A disease‐causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication

Subjects: SCN1A gene; Gain of Function; Focal Epilepsy

  • Source: ISSN: 0013-9580.

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Academic Journal

Origin and mobility of Iron Age Gaulish groups in present-day France revealed through archaeogenomics

Subjects: [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

  • Source: EISSN: 2589-0042 ; iScience ; https://hal.science/hal-03914132 ; iScience, 2022, 25 (4), pp.104094. ⟨10.1016/j.isci.2022.104094⟩

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Academic Journal

Ultrafast Gene Fusion Assessment for Nonsquamous NSCLC

Subjects: Gene fusion; Non-small cell lung carcinoma; Next generation sequencing

  • Source: ISSN: 2666-3643.

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Academic Journal

Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy

Subjects: MESH: Artificial Intelligence; Humans; Muscular Dystrophy

  • Source: ISSN: 1750-1172 ; Orphanet Journal of Rare Diseases ; https://amu.hal.science/hal-03596523 ; Orphanet Journal of Rare Diseases, 2022, 17 (1), pp.96. ⟨10.1186/s13023-021-01793-6⟩ ;

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Academic Journal

Genomic and dietary discontinuities during the Mesolithic and Neolithic in Sicily

Subjects: [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory

  • Source: EISSN: 2589-0042 ; iScience ; https://hal.science/hal-04043579 ; iScience, 2022, 25 (5), pp.104244. ⟨10.1016/j.isci.2022.104244⟩

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  • 1-10 ل  45 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""