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  • 1-10 ل  152 نتائج ل ""penetrance""

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Publication : plos one فلترة بواسطة : مصطلح موضوعي
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Academic Journal

Loss of MeCP2 Causes Urological Dysfunction and Contributes to Death by Kidney Failure in Mouse Models of Rett Syndrome.

Subjects: Animals; Humans; Mice

  • Source: PloS one. 11(11)

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Academic Journal

Quantile-specific penetrance of genes affecting lipoproteins, adiposity and height.

Subjects: Humans; Lipoproteins; Body Mass Index

  • Source: PloS one. 7(1)

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Academic Journal

The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.

  • Authors : Paterson AD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

Subjects: Genetic Counseling* ; High-Throughput Nucleotide Sequencing*; Penetrance

  • Source: PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0290336. Date of Electronic Publication: 2023 Sep 21 (Print Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population

Subjects: MicroRNAs; Multidisciplinary; Gene Frequency

  • Source: PloS one. 17(3)

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Clinical and molecular characterization of patients fulfilling Chompret criteria for Li-Fraumeni syndrome in Southern Brazil

Subjects: Oncology; Proband; Male

  • Source: PLoS ONEPLoS ONE, Vol 16, Iss 9, p e0251639 (2021)

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Germline molecular data in hereditary breast cancer in Brazil: Lessons from a large single-center analysis

Subjects: Epidemiology; Geographical locations; Tertiary Care Centers

  • Source: PLoS ONEPLoS ONE, Vol 16, Iss 2, p e0247363 (2021)

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Correction: CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders

Subjects: 0301 basic medicine; Genetic Screens; Science

  • Source: PLoS ONEPLoS ONE, Vol 15, Iss 6, p e0235547 (2020)

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Evaluating the detection ability of a range of epistasis detection methods on simulated data for pure and impure epistatic models

Subjects: Multifactor Dimensionality Reduction; Multidisciplinary; Genotype

  • Source: PLOS ONE. 17:e0263390

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Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease

Subjects: Male; Candidate gene; Life Cycles

  • Source: PLoS ONE, Vol 15, Iss 3, p e0230566 (2020)PLoS ONE

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CalPen (Calculator of Penetrance), a web-based tool to estimate penetrance in complex genetic disorders

Subjects: Internet; Multidisciplinary; Models, Statistical

  • Source: PLoS ONEPLoS ONE, Vol 15, Iss 1, p e0228156 (2020)

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  • 1-10 ل  152 نتائج ل ""penetrance""