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  • 1-10 ل  60 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""

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Collection : Universite De Rennes 1
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Academic Journal

The loss of DNA polymerase epsilon accessory subunits POLE3-POLE4 leads to BRCA1-independent PARP inhibitor sensitivity

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

  • Source: ISSN: 0305-1048.

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Academic Journal

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

Subjects: RNA-seq; clinical diagnoses; genome sequencing

  • Source: ISSN: 2296-634X ; Frontiers in Cell and Developmental Biology ; https://univ-rennes.hal.science/hal-04067649 ; Frontiers in Cell and Developmental Biology, 2023, 11, pp.1021920.

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Academic Journal

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

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

  • Source: ISSN: 0197-3851.

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Academic Journal

New insights into CC2D2A -related Joubert syndrome

Subjects: Cerebellar diseases; Genetic testing; Genotype

  • Source: ISSN: 0022-2593.

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Academic Journal

Genome sequencing for genetics diagnosis of patients with intellectual disability: the DEFIDIAG study

Subjects: genome sequencing; intellectual disability; cost-effectiveness

  • Source: ISSN: 1664-8021 ; Frontiers in Genetics ; https://hal.science/hal-03610031 ; Frontiers in Genetics, 2022, 12, pp.766964.

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Academic Journal

Premature ovarian insufficiency in CLPB deficiency: transcriptomic, proteomic and phenotypic insights

Subjects: CLPB; genetics; infertility

  • Source: ISSN: 0021-972X.

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Academic Journal

FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects

Subjects: AP-1 complex; Adams-Oliver syndrome; Aplasia cutis congenita of scalp

  • Source: ISSN: 1098-3600.

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Academic Journal

A Robust and Fast/Multiplex Pharmacogenetics Assay to Simultaneously Analyze 17 Clinically Relevant Genetic Polymorphisms in CYP3A4, CYP3A5, CYP1A2, CYP2C9, CYP2C19, CYP2D6, ABCB1, and VKORC1 Genes

Subjects: pharmacogenetics; panel; multiplex

  • Source: ISSN: 1424-8247 ; Pharmaceuticals ; https://hal.science/hal-03755963 ; Pharmaceuticals, 2022, 15 (5), pp.637. ⟨10.3390/ph15050637⟩.

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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

Two repeated motifs enriched within some enhancers and origins of replication are bound by SETMAR isoforms in human colon cells ; Deux motifs répétés enrichis dans certains amplificateurs et origines de réplication sont liés par les isoformes de SETMAR dans les cellules du côlon humain.

Subjects: transposon; MITE; domestication

  • Source: ISSN: 0888-7543.

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  • 1-10 ل  60 نتائج ل ""[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics""