Showing 41 - 60 results of 359 for search '"medical genetics"', query time: 0.08s Refine Results
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    Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss by Tatiana G. Markova, Natalia N. Alekseeva, Oxana P. Ryzhkova, Olga L. Shatokhina, Anna A. Orlova, Viktoriia V. Zabnenkova, Olga S. Groznova, Olesya V. Sagaydak, Svetlana S. Chibisova, Alexander V. Polyakov, George A. Tavartkiladze

    Published 2024-03-01
    “…In general, the study widened the mutation spectrum of the gene, allowing to carry out medical genetic counseling and to answer the questions about the hearing impairment prognosis for future generations.…”
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    Multigene Panel Testing in Turkish Hereditary Cancer Syndrome Patients by Esra ARSLAN ATES, Ayberk TURKYILMAZ, Ceren ALAVANDA, Ozlem YILDIRIM, Ahmet Ilter GUNEY

    Published 2022-06-01
    “…In addition, 25 HCS-related genes were sequenced using a multigene panel, and variations were classified according to the American College of Medical Genetics and Genomics (ACMG) criteria. In total, 218 HCS patients predominantly with breast, colorectal, ovarian, gastric, and endometrium cancers were included. …”
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