Showing 281 - 300 results of 986 for search '"Genetics"', query time: 0.07s Refine Results
  1. 281

    Prenatal Cytogenetic Findings in 13.466 Cases of High-Risk Pregnant Women in One Laboratory by Leyla Özer, Evrim Ünsal, Özge Ayvaz, Aşkın Şen, Volkan Baltacı

    Published 2013-12-01
    “…STUDY DESIGN: Between years 2001 and 2009, a large series of 13466 pregnant women with various high-risk factors were referred to our genetic laboratory for prenatal genetic diagnosis. 12.124 amniocentesis, 212 chorionic villus sampling (CVS), 173 percutaneous umbilical blood sampling (PUBS) samples and 809 fetal and placental tissue samples (from aborted or from stillbirth fetuses) were collected. …”
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    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

    Published 2025-02-01
    “…This study highlights the importance of considering semi-dominant inheritance models for dystrophic epidermolysis bullosa and other Mendelian diseases with an autosomal recessive mode of inheritance, as it can significantly impact diagnosis and genetic counseling.…”
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  5. 285

    SPAGRM: effectively controlling for sample relatedness in large-scale genome-wide association studies of longitudinal traits by He Xu, Yuzhuo Ma, Lin-lin Xu, Yin Li, Yufei Liu, Ying Li, Xu-jie Zhou, Wei Zhou, Seunggeun Lee, Peipei Zhang, Weihua Yue, Wenjian Bi

    Published 2025-02-01
    “…A common strategy is to incorporate a random effect related to genetic relatedness matrix (GRM) into regression models. …”
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