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Browsing Tag

Human Genetics

48 posts
GGenetics
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia
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A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia

  • July 4, 2025
Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace…
GGenetics
Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review | Orphanet Journal of Rare Diseases
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Pitfalls in the diagnosis of apparent homozygous mutations: two cases of IL10RA deficiency inflammatory bowel disease and a literature review | Orphanet Journal of Rare Diseases

  • July 3, 2025
Clinical phenotypes of two patients with apparent homozygous mutations Patient 1: A 4-month-old boy from a non-consanguineous Chinese…
GGenetics
Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches
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Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches

  • July 3, 2025
Nakamori, M & Takahashi, MP Myotonic dystrophy. In: Takeda S, Miyagoe-Suzuki Y, Mori-Yoshimura M, editors. Translational research in…
GGenetics
How chemotherapy shapes hematopoietic stem cells
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How chemotherapy shapes hematopoietic stem cells

  • July 1, 2025
Welch, J. S. et al. Cell 150, 264–278 (2012). Article  CAS  PubMed  PubMed Central  Google Scholar  Mitchell, E.…
GGenetics
Structural variants in the 3D genome as drivers of disease
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Structural variants in the 3D genome as drivers of disease

  • June 30, 2025
Kaschta, D. et al. Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis. Preprint…
GGenetics
How and when organisms edit their own genomes
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How and when organisms edit their own genomes

  • June 29, 2025
Lindahl, T. Instability and decay of the primary structure of DNA. Nature 362, 709–715 (1993). Article  CAS  PubMed …
GGenetics
Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank
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Genetic influences on antidepressant side effects: a CYP2C19 gene variation and polygenic risk study in the Estonian Biobank

  • June 27, 2025
Rush AJ, Trivedi MH, Wisniewski SR, Nierenberg AA, Stewart JW, Warden D, et al. Acute and Longer-Term Outcomes…
GGenetics
Genetic diversity and fine-scale spatial genetic structure of European beech populations along an elevational gradient
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Genetic diversity and fine-scale spatial genetic structure of European beech populations along an elevational gradient

  • June 26, 2025
Alberto FJ, Aitken SN, Alía R, González-Martínez SC, Hänninen H, Kremer A et al. (2013) Potential for evolutionary…
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