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  • 1-10 ل  12 نتائج ل ""Human Genome""

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Collection : Universite De Bourgogne (Ub)
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Academic Journal

Transcriptome-wide identification of transient RNA G-quadruplexes in human cells

Subjects: Translation Regulation; Expression Analysis; Gene-Expression

  • Source: ISSN: 2041-1723.

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Academic Journal

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

Subjects: SRSF1; splicing; neurodevelopmental disorder

  • Source: ISSN: 0002-9297.

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Academic Journal

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

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

  • Source: ISSN: 2375-2548 ; Science Advances ; https://hal.science/hal-04122721 ; Science Advances , 2023, 9 (10), pp.eade1463. ⟨10.1126/sciadv.ade1463⟩.

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Academic Journal

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Subjects: QRICH1; hypotonia; intellectual disability

  • Source: ISSN: 1059-7794.

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Academic Journal

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

Subjects: ARID1A; ARID1B BAFopathy; BAF-complex

  • Source: ISSN: 1098-3600.

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Academic Journal

Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities

Subjects: DPYSL5; brain malformation; corpus callosum agenesis

  • Source: ISSN: 0002-9297.

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Academic Journal

How to untie G-quadruplex knots and why?

Subjects: G-quadruplex; helicases; genetic instability

  • Source: ISSN: 2451-9456 ; Cell Chemical Biology ; https://hal.science/hal-03200901 ; Cell Chemical Biology, 2021, 28 (4), pp.436 - 455. ⟨10.1016/j.chembiol.2021.01.015⟩.

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Academic Journal

Biomimetic, Smart, and Multivalent Ligands for G-Quadruplex Isolation and Bioorthogonal Imaging

Subjects: [CHIM.ORGA]Chemical Sciences/Organic chemistry; [SDV.BBM.BP]Life Sciences [q-bio]/Biochemistry; Molecular Biology/Biophysics

  • Source: ISSN: 1554-8929.

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Academic Journal

Identification of Three-Way DNA Junction Ligands through Screening of Chemical Libraries and Validation by Complementary in Vitro Assays

Subjects: [SDV.BBM]Life Sciences [q-bio]/Biochemistry; Molecular Biology; [CHIM.THER]Chemical Sciences/Medicinal Chemistry

  • Source: ISSN: 0022-2623.

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Academic Journal

Small-molecule affinity capture of DNA/RNA quadruplexes and their identification in vitro and in vivo through the G4RP protocol

Subjects: [SDV.BBM]Life Sciences [q-bio]/Biochemistry; Molecular Biology; [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry

  • Source: ISSN: 0305-1048.

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  • 1-10 ل  12 نتائج ل ""Human Genome""