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  • 1-10 ل  21 نتائج ل ""MEDICAL genetics""

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Collection : Hal Universite Cote D'azur
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Academic Journal

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Subjects: [SDV]Life Sciences [q-bio]; [SDV.BC]Life Sciences [q-bio]/Cellular Biology

  • Source: ISSN: 1474-4422.

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Academic Journal

Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases

Subjects: Exome; Mitochondrial disorders; Next generation sequencing

  • Source: ISSN: 1471-2350 ; BMC Medical Genetics ; https://inserm.hal.science/inserm-02303724 ; BMC Medical

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Academic Journal

Diagnosis and management of children and adult craniopharyngiomas: a French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement

Subjects: [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism; [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics

  • Source: ISSN: 0003-4266.

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Academic Journal

Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study

Subjects: enzymotherapy; glycogenosis; switch

  • Source: ISSN: 1351-5101.

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Academic Journal

Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers.

Subjects: [SDV.CAN]Life Sciences [q-bio]/Cancer

  • Source: ISSN: 1465-5411.

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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

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

New KCNN4 Variants Associated With Anemia: Stomatocytosis Without Erythrocyte Dehydration

Subjects: Hereditary Xerocytosis; Stomatocytosis; red blood cell

  • Source: ISSN: 1664-042X ; Frontiers in Physiology ; https://hal.science/hal-03821148 ; Frontiers in Physiology, 2022, 13, ⟨10.3389/fphys.2022.918620⟩.

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Academic Journal

A roadmap for the Human Developmental Cell Atlas

Subjects: Developmental biology; Embryology; [SDV.BDD]Life Sciences [q-bio]/Development Biology

  • Source: ISSN: 0028-0836.

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Academic Journal

Publishing in pandemic times: A bibliometric analysis of early medical publications on Kawasaki-like disease (MIS-C, PIMS-TS) related to SARS-CoV-2

Subjects: Bibliometric; COVID-19; Kawasaki-like

  • Source: ISSN: 0929-693X.

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  • 1-10 ل  21 نتائج ل ""MEDICAL genetics""