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  • 1-4 ل  4 نتائج ل ""2716 Genetics (clinical)""

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Analysis of fibroblasts from patients with cblC and cblG genetic defects of cobalamin metabolism reveals global dysregulation of alternative splicing

Subjects: Proteomics; [MATH.MATH-PR] Mathematics [math]/Probability [math.PR]; MESH: Vitamin B 12 Deficiency

  • Source: Human Molecular GeneticsHuman Molecular Genetics, Oxford University Press (OUP), 2020, 29 (12), pp.1969-1985.

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Large tandem duplications affect gene expression, 3D organization, and plant–pathogen response

Subjects: [SDV.GEN.GPL]Life Sciences [q-bio]/Genetics/Plants genetics; arabidopsis; 2716 Genetics (clinical)

  • Source: Genome ResearchGenome Research, In press, ⟨10.1101/gr.261586.120⟩Genome Research, Cold Spring Harbor Laboratory Press, In press, ⟨10.1101/gr.261586.120⟩

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Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia

Subjects: Models, Molecular; 2716 Genetics (clinical); Anemia, Megaloblastic

  • Source: Human Molecular GeneticsHuman Molecular Genetics, Oxford University Press (OUP), 2013, 22 (22), pp.4591-601.

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Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Subjects: Male; Proband; Pathology

  • Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, 2013, 8 (1), pp.36. ⟨10.1186/1750-1172-8-36⟩Orphanet Journal of Rare Diseases, BioMed Central, 2013, 8 (1), pp.36.

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  • 1-4 ل  4 نتائج ل ""2716 Genetics (clinical)""