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His laboratory has been built around modern techniques applied with meticulous care to large numbers of cases. Albert’s encyclopaedic knowledge has lead to the discovery and documentation of many correlations between aberrant karyotypes and abnormal development. His earlier and ongoing work includes analysis of prenatal and postnatal cases involving mosaicism and triploidy as well as structural chromosome abnormalities. In the last decade, exploiting the strengths of molecular cytogenetics, he has discovered many microdeletions and cryptic aberrations, and has been involved in identifying complex cases of uniparental disomy. Among his many publications and achievements, the 1000-page "Catalog of Unbalanced Chromosome Aberrations in Man" and the Human Cytogenetics Database on CD with clinical and cytogenetic information on 1,200 chromosome aberrations have found a place in every human cytogenetic laboratory. Many of his papers are essential reading in courses on medical genetics. No less than five medical syndromes with developmental disorders are now associated with Schinzel, in particular the Schinzel-Giedion congenital neurodegenerative terminal syndrome.
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论文共 132 篇作者统计合作学者相似作者
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Rocio Acuna-Hidalgo,Pelagia Deriziotis,Marloes Steehouwer,Christian Gilissen,Sarah A. Graham,Sipko van Dam,Julie Hoover-Fong, Aida Telegrafi, A Destree,Robert Smigiel, Lindsday A. Lambie,Hülya Kayserili,
Andrew J. Sharp,Eugenia Migliavacca, Yann Dupre, Elisavet Stathaki,Mohammad Reza Sailani, Alessandra Baumer,Albert Schinzel,Deborah J. Mackay,David O. Robinson,Gilda Cobellis, Luigi Cobellis,Han G. Brunner,
semanticscholar(2017)
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