Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Mckie, Lisa"'
Autor:
Cross SH; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Mckie L; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Hurd TW; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Riley S; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Wills J; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom., Barnard AR; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom., Young F; Electron Microscopy, Pathology, Western General Hospital, Edinburgh, United Kingdom., MacLaren RE; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, The John Radcliffe Hospital, Oxford, United Kingdom., Jackson IJ; MRC Human Genetics Unit, MRC Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom.; Roslin Institute, University of Edinburgh, Easter Bush, Midlothian, United Kingdom.
Publikováno v:
PLoS genetics [PLoS Genet] 2020 Apr 01; Vol. 16 (4), pp. e1008583. Date of Electronic Publication: 2020 Apr 01 (Print Publication: 2020).
Autor:
Carpanini SM; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. The Roslin Institute, University of Edinburgh, Edinburgh EH25 9RG, UK., McKie L; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Thomson D; Euan MacDonald Centre for Motor Neurone Disease Research and Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Wright AK; Euan MacDonald Centre for Motor Neurone Disease Research and Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Gordon SL; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Roche SL; Euan MacDonald Centre for Motor Neurone Disease Research and Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Handley MT; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Morrison H; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Brownstein D; Queen's Medical Research Institute, University of Edinburgh, Edinburgh, EH16 4TJ, UK., Wishart TM; The Roslin Institute, University of Edinburgh, Edinburgh EH25 9RG, UK. Euan MacDonald Centre for Motor Neurone Disease Research and Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Cousin MA; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK., Gillingwater TH; Euan MacDonald Centre for Motor Neurone Disease Research and Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK. t.gillingwater@ed.ac.uk ian.jackson@igmm.ed.ac.uk., Aligianis IA; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Jackson IJ; MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. The Roslin Institute, University of Edinburgh, Edinburgh EH25 9RG, UK. t.gillingwater@ed.ac.uk ian.jackson@igmm.ed.ac.uk.
Publikováno v:
Disease models & mechanisms [Dis Model Mech] 2014 Jun; Vol. 7 (6), pp. 711-22. Date of Electronic Publication: 2014 Apr 24.
Autor:
Kishan Sokhi, Jacqueline Ramsay, Tanya Bardakjian, Adele Schneider, Nursel Elcioglu, Raoul C.M. Hennekam, C. Nur Semerci, Ferda Ozkinay, Joe Rainger, David Sexton, Andrea Superti Furga, Anita Saponari, Lina Ramos, Ellen van Beusekom, Malcolm E. Fisher, Gabriele Gillessen-Kaesbach, Anita Wischmeijer, Ian J. Jackson, Sérgio B. Sousa, Hans van Bokhoven, Rainer Koenig, Lihadh Al-Gazali, Paul Perry, Peter Branney, Louise S. Bicknell, Harris Morrison, Livia Garavelli, Dagmar Wieczorek, André Mégarbané, Rosanna Pallotta, Han G. Brunner, Lisa McKie, Saemah Nuzhat Zafar, Philippe Gautier, Ayesha Khan, David R. FitzPatrick
Publikováno v:
Rainger, J, van Beusekom, E, Ramsay, J K, McKie, L, Al-Gazali, L, Pallotta, R, Saponari, A, Branney, P, Fisher, M, Morrison, H, Bicknell, L, Gautier, P, Perry, P, Sokhi, K, Sexton, D, Bardakjian, T M, Schneider, A S, Elcioglu, N, Ozkinay, F, Koenig, R, Mégarbané, A, Semerci, C N, Khan, A, Zafar, S, Hennekam, R, Sousa, S B, Ramos, L, Garavelli, L, Furga, A S, Wischmeijer, A, Jackson, I J, Gillessen-Kaesbach, G, Brunner, H G, Wieczorek, D, van Bokhoven, H & Fitzpatrick, D R 2011, ' Loss of the BMP Antagonist, SMOC-1, Causes Ophthalmo-Acromelic (Waardenburg Anophthalmia) Syndrome in Humans and Mice ', PLoS Genetics, vol. 7, no. 7, e1002114 . https://doi.org/10.1371/journal.pgen.1002114
PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Plos Genetics, 7, e1002114-e1002114
PLoS genetics, 7(7). Public Library of Science
PLOS Genetics, 7(7):e1002114. Public Library of Science
Plos Genetics, 7, 7, pp. e1002114-e1002114
Plos Genetics, vol. 7, no. 7, pp. e1002114
PLoS Genetics
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Plos Genetics, 7, e1002114-e1002114
PLoS genetics, 7(7). Public Library of Science
PLOS Genetics, 7(7):e1002114. Public Library of Science
Plos Genetics, 7, 7, pp. e1002114-e1002114
Plos Genetics, vol. 7, no. 7, pp. e1002114
WOS: 000293338600004
PubMed ID: 21750680
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyn
PubMed ID: 21750680
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyn