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  1. No Access

    Article

    De Barsy syndrome—an autosomal recessive, progeroid syndrome

    We report two families with seven siblings with de Barsy syndrome. Characteristic features include severe mental retardation, hypermobility with athetoid movements, grimacing, muscular hypotonia, laxity of sma...

    J. Kunze, F. Majewski, Ph. Montgomery, A. Hockey… in European Journal of Pediatrics (1985)

  2. No Access

    Chapter and Conference Paper

    Mixed Karyotypes Obtained by Chorionic Villi Analysis: Mosaicism and Maternal Contamination

    We report here on a series of chromosome analyses of 60 chorionic villi samples. The villi were obtained from chorionic biopsies carried out immediately before termination of pregnancy or from abortions (spont...

    I. Karkut, S. Zakrzewski, K. Sperling in First Trimester Fetal Diagnosis (1985)