Showing 381 - 400 results of 1,417 for search '"genetics"', query time: 0.04s Refine Results
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    CLN6‐related continuum phenotype caused by aberrant splicing by Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia

    Published 2025-02-01
    “…Abstract Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. …”
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  18. 398

    Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

    Published 2025-04-01
    “…Our laboratory has confirmed variants at position p.Arg225 of the ARHGEF40 protein in multiple unrelated individuals with a phenotype including dysmorphic features, congenital anomalies and neurodevelopmental abnormalities. Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. …”
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  19. 399

    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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