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  • 1-10 ل  97 نتائج ل ""Human genetics""

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Collection : Ephe (Ecole Pratique Des Hautes Etudes, Paris)
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Academic Journal

Expanding the genetic and clinical spectrum of Tatton-Brown-Rahman syndrome in a series of 24 French patients

Subjects: exome sequencing; genetic diseases; inborn

  • Source: ISSN: 0022-2593.

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Academic Journal

Linguistic, archaeological and genetic evidence suggests multiple agriculture-driven migrations of Sino-Tibetan speakers from Northern China to the Indian subcontinent

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

  • Source: ISSN: 1040-6182 ; Quaternary International ; https://shs.hal.science/halshs-04776850 ; Quaternary International, 2024, 711, pp.1-20. ⟨10.1016/j.quaint.2024.09.001⟩.

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Academic Journal

Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders

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

  • Source: ISSN: 0197-3851.

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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

MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

Subjects: LoF; MARK2 variants; WNT/β-catenin signaling pathway

  • Source: ISSN: 0002-9297.

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Academic Journal

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

Subjects: Adult; ARID1B; Coffin–Siris syndrome

  • Source: ISSN: 2949-7744 ; Genetics in Medicine Open ; https://univ-rennes.hal.science/hal-04782930 ; Genetics in Medicine Open, 2024, 2,

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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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Exploring rare disease realities: a systematic literature review on harnessing social media patient-generated data

Subjects: Rare diseases; Genetic rare diseases; Congenital diseases

  • Source: https://hal.science/hal-04813759 ; 2024.

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Academic Journal

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis

Subjects: MESH: Humans; MESH: Polycythemia; MESH: Hypoxia-Inducible Factor-Proline Dioxygenases

  • Source: ISSN: 0390-6078.

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Academic Journal

Extreme thrombocytosis with an aggressive evolution harboring a novel variant of calreticulin (CALR) in exon 3

Subjects: calreticulin variant; MDS/MPN; acute myeloid leukemia

  • Source: ISSN: 0902-4441.

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  • 1-10 ل  97 نتائج ل ""Human genetics""