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Results: 1-5 |
Results: 5
Biallelic mutation of BEST1 causes a distinct retinopathy in humans
Authors: Burgess, Rosemary Millar, Ian D. Leroy, Bart P. Urquhart, Jill E. Black, Graeme C.M.
Citation: Burgess, Rosemary et al., Biallelic mutation of BEST1 causes a distinct retinopathy in humans, American journal of human genetics , 82(1), 2008, pp. 19-31
Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum
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
Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria
Authors: O'Driscoll, Mary C. Daly, Sarah B. Urquhart, Jill E. Black, Graeme C.M. Crow, Yanick J.
Citation: C. O'Driscoll, Mary et al., Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria, American journal of human genetics (Online) AJHG , 87(3), 2010, pp. 354-364
Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance
Authors: Burkitt Wright, Emma M.M. Spencer, Helen L. Daly, Sarah B. Manson, Forbes D.C. Black, Graeme C.M.
Citation: Burkitt Wright, Emma M.m et al., Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance, American journal of human genetics (Online) AJHG , 88(6), 2011, pp. 767-777
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
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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