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Results: 1-4 |
Results: 4

Authors: Boland, Elena Clayton-Smith, Jill Woo, Victoria G. McKee, Shane Manson, Forbes D.C. Medne, Livija Zackai, Elaine Swanson, Eric A. Fitzpatrick, David Millen,Kathleen J. Sherr, Elliott H. Dobyns, William B Black, Graeme C.M.
Citation: Boland, Elena et al., Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum, American journal of human genetics , 81(2), 2007, pp. 292-303

Authors: Clayton-Smith, Jill O'Sullivan, James Daly, Sarah Bhaskar, Sanjeev
Citation: Clayton-smith, Jill et al., Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome, American journal of human genetics (Online) AJHG , 89(5), 2011, pp. 675-681

Authors: Hammond, Peter Hutton, Tim J. Allanson, Judith E. Buxton, Bernard Campbell, Linda E. Clayton-Smith, Jill Donnai, Dian Karmiloff-Smith, Annette Metcalfe, Kay Murphy, Kieran C. Patton, Michal Pober, Barbara Prescott, Katrina Scambler, Pete Shaw, Adam Smith, Ann C.M. Stevens, Angela F. Temple, Karen I. Hennekam, Raoul Tassabehji, May
Citation: Hammond, Peter et al., Discriminating Power of Localized Three-Dimensional Facial Morphology, American journal of human genetics , 77(6), 2005, pp. 999-1010

Authors: Kolehmainen, Juha Black, Graeme C.M. Saarinen, Anne Chandler, Kate Clayton-Smith, Jill Träskelin, Ann-Liz Perveen, Rahat Kivitie-Kallio, Satu Norio, Reijo Warburg, Mette Fryns, Jean-Pierre de la Chapelle, Albert Lehesjoki, Anna-Elina
Citation: Kolehmainen, Juha et al., Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport, American journal of human genetics , 72(6), 2003, pp. 1359-1369
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