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  • 1-10 ل  339 نتائج ل ""HUMAN genetics""

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Collection : Aix-Marseille Universite
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Academic Journal

Patterns of perinatal polyunsaturated fatty acid status and associated dietary or candidate-genetic factors

Subjects: epidemiology; omega-3 fatty acids; pregnancy

  • Source: ISSN: 0022-2275 ; Journal of Lipid Research ; https://hal.science/hal-04767980 ; Journal of Lipid Research, 2024, 65 (6), pp.100562. ⟨10.1016/j.jlr.2024.100562⟩.

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Academic Journal

PSAP‐Genomic‐Regions: A Method Leveraging Population Data to Prioritize Coding and Non‐Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis

Subjects: rare diseases; non-coding variants; whole-genome sequencing

  • Source: ISSN: 0741-0395.

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Academic Journal

System-level analysis of genes mutated in muscular dystrophies reveals a functional pattern associated with muscle weakness distribution

Subjects: [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics

  • Source: ISSN: 2045-2322.

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Academic Journal

Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders

Subjects: RFWD3; RPA; telomere

  • Source: ISSN: 0890-9369 ; Genes and Development ; https://hal.science/hal-04727278 ; Genes and Development, 2024, 38 (15-16), pp.755-771. ⟨10.1101/gad.352032.124⟩.

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Academic Journal

Long genetic and social isolation in Neanderthals before their extinction

Subjects: Europe; Neanderthal extinction; fossils

  • Source: ISSN: 2666-979X ; Cell Genomics ; https://ut3-toulouseinp.hal.science/hal-04709009 ; Cell Genomics, 2024, 4 (9), pp.100593. ⟨10.1016/j.xgen.2024.100593⟩.

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Academic Journal

Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults

Subjects: ABCA3; SFTPC; adults

  • Source: ISSN: 1323-7799.

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Academic Journal

CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.

Subjects: [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology; [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics; [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie

  • Source: ISSN: 0361-8609.

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Book

Multiple Representations of Human Genetics in Biology Textbooks

Subjects: Epigenetics; Genetic determinism; International comparison

  • Source: Multiple Representations in Biological Education ; https://hal.science/hal-01026089 ; D.F. Treagust and C.-Y. Tsui. Multiple Representations in Biological Education, Springer, pp.147-164, 2014, Models

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Report

PSAP-genomic-regions: a method leveraging population data to prioritize coding and non-coding variants in whole genome sequencing for rare disease diagnosis

Subjects: Variant prioritization; Rare disease; Non-coding genome

  • Source: https://hal.science/hal-04478324 ; 2024.

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Academic Journal

Report on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!

Subjects: Rare syndrome; Moreno-Nishimura-Schmidt overgrowth syndrome; Clinical genetics

  • Source: ISSN: 1661-8769.

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  • 1-10 ل  339 نتائج ل ""HUMAN genetics""