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Bio
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.
Research Interests
Papers共 152 篇Author StatisticsCo-AuthorSimilar Experts
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Reza Asadollahi, Justin E Strauss,Martin Zenker,Oliver Beuing,Simon Edvardson,Orly Elpeleg,Tim M Strom,Pascal Joset,Dunja Niedrist,Christine Otte,Beatrice Oneda,Paranchai Boonsawat,Silvia Azzarello-Burri,Deborah Bartholdi,Michael Papik,Markus Zweier,Cordula Haas,Arif B Ekici,Alessandra Baumer,Eugen Boltshauser,Katharina Steindl,Michael Nothnagel,Albert Schinzel,Esther T Stoeckli,Anita Rauch
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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,Umut Altunoglu,Elisabetta Lapi,Maria Luisa Giovannucci Uzielli,Mariana Aracena,Banu Nur,Ercan Mihci,Lilia Maria de Azevedo Moreira, Viviane Borges Ferreira,Dafne D. G. Horovitz,Kátia M. Rocha,Aleksandra Jezela-Stanek,Alice S. Brooks,Heiko Reutter,Julie S. Cohen,Ali Fatemi,Martin Smitka,Theresa A. Grebe,Nataliya Di Donato,Charu Deshpande,Anthony Vandersteen,Charles Marques Lourenço,Andreas Dufke,Eva Rossier,Gwenaelle Andre,Alessandra Baumer,Careni Spencer,Julie McGaughran,Lude Franke,Joris A. Veltman,Bert B.A. de Vries,Albert Schinzel,Simon E. Fisher,Alexander Hoischen,Bregje W.M. van Bon
Niels Tommerup,Ana Carolina Fonseca,Mana Mehrjouy,Malene B. Rasmussen,Iben Bache,Christina Halgren,Peter Kroisel,Susanna Midyan,Joris Vermeesch,Angela M. Vianna-Morgante,Kikue T. Abe,Danilo Moretti-Ferreira, Giorgio Paskulin,Lyudmila Angelova,Evica Rajcan-Separovic,Carolina Sismani,Zdenek Sedlacek,Christina Fagerberg,Karen Brondum-Nielsen,Ida Vogel,Anders Bojesen,Katrin Ounap,Laura Roht,Teppo Varilo, Tiia Luukkonen,James Lespinasse,Claire Beneteau,Vera M. Kalscheuer,Nadja Ehmke, Cornelia Daumer-Haas,Eunice G. Stefanou,Marta Czako,Gyorgy Kosztolanyi, Frenny Sheth,Orsetta Zuffardi,Clara Bonaglia,Antonio Novelli,Madeleine Fannemel,Patricia Dias,Nadja Kokalj-Vokac,Maria A. Ramos-Arroyo, Laura Rodriguez Martinez,Miriam Guitart,Albert Schinzel,John Engelen,Fatma Silan,Yassmine Akkari,Jacqueline R. Batanian,Hyung-Goo Kim,Constantia Aristidou, Cynthia De Almeida,Suzanne Lewis,Maria Moreno-Igoa,Anna Hovhannisyan,Peter Jacky,Mads Bak
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semanticscholar(2017)
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Author Statistics
#Papers: 152
#Citation: 5298
H-Index: 35
G-Index: 70
Sociability: 7
Diversity: 0
Activity: 0
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