檢索結果 - Robert J. Gorlin
- Showing 1 - 16 results of 16
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Syndromes of the Head and Neck. 由 Robert J. Gorlin, Michael Cohen, Stefan L. Levin
出版 1992Artigo -
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome 由 Laurence Faivre, Robert J. Gorlin, Mary K. Wirtz, Maurice Godfrey, Nathalie Dagoneau, J. R. Samples, Martine Le Merrer, Gwenaëlle Collod‐Béroud, Cathérine Boileau, Arnold Münnich, Valérie Cormier‐Daire
出版 2003Artigo -
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Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR 由 David Ng, Nalin Thakker, Connie M. Corcoran, Dian Donnai, Rahat Perveen, Adele Schneider, Donald W. Hadley, Cynthia J. Tifft, Liqun Zhang, Andrew O.M. Wilkie, Jasper J. van der Smagt, Robert J. Gorlin, Shawn M. Burgess, Vivian J. Bardwell, Graeme Black, Leslie G. Biesecker
出版 2004Artigo -
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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans 由 Stephen P. Robertson, Stephen R.F. Twigg, Andrew J. Sutherland‐Smith, Valérie Biancalana, Robert J. Gorlin, Denise Horn, Susan Kenwrick, Chong Ae Kim, Éva Morava, Ruth Newbury‐Ecob, Karen Helene Ørstavik, Oliver Quarrell, Charles E. Schwartz, Deborah Shears, Mohnish Suri, John Kendrick‐Jones, Andrew O.M. Wilkie
出版 2003Artigo -
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Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK 由 Ernst Reichenberger, Valdenize Tiziani, Shôji Watanabe, Lucy Park, Yasuyoshi Ueki, Carla Santanna, Scott T. Baur, Rita Shiang, Dorothy K. Grange, Peter Beighton, Jessica C. Gardner, Herman A. Hamersma, S. L. Sellars, Raj Ramesar, Andrew C. Lidral, Annmarie Sommer, Cassio Menezes Raposo do Amaral, Robert J. Gorlin, John B. Mulliken, Bjørn R. Olsen
出版 2001Artigo
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