Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
![]() |
OPA1 increases the risk of normal but not high tension glaucomaYu-Wai-Man, P ; Stewart, J D ; Hudson, G ; Andrews, R M ; Griffiths, P G ; Birch, M K ; Chinnery, P FJournal of medical genetics, 2010-02, Vol.47 (2), p.120-125 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
2 |
Material Type: Artigo
|
![]() |
A genetic screening programme for Tay-Sachs disease and cystic fibrosis for Australian Jewish high school studentsBarlow-Stewart, K ; Burnett, L ; Proos, A ; Howell, V ; Huq, F ; Lazarus, R ; Aizenberg, HJournal of medical genetics, 2003-04, Vol.40 (4), p.e45-45 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
3 |
Material Type: Artigo
|
![]() |
Cultural aspects of cancer genetics: setting a research agendaMeiser, Bettina ; Eisenbruch, Maurice ; Barlow-Stewart, Kristine ; Tucker, Katherine ; Steel, Zachary ; Goldstein, DavidJournal of Medical Genetics, 2001-07, Vol.38 (7), p.425-429 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
4 |
Material Type: Artigo
|
![]() |
Orofaciodigital syndrome type I associated with polycystic kidneys and agenesis of the corpus callosumConnacher, A A ; Forsyth, C C ; Stewart, W KJournal of medical genetics, 1987-02, Vol.24 (2), p.116-118 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
5 |
Material Type: Artigo
|
![]() |
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variantHannes, F D ; Sharp, A J ; Mefford, H C ; de Ravel, T ; Ruivenkamp, C A ; Breuning, M H ; Fryns, J-P ; Devriendt, K ; Van Buggenhout, G ; Vogels, A ; Stewart, H ; Hennekam, R C ; Cooper, G M ; Regan, R ; Knight, S J L ; Eichler, E E ; Vermeesch, J RJournal of medical genetics, 2009-04, Vol.46 (4), p.223-232 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
6 |
Material Type: Artigo
|
![]() |
NAA10 polyadenylation signal variants cause syndromic microphthalmiaJohnston, Jennifer J ; Williamson, Kathleen A ; Chou, Christopher M ; Sapp, Julie C ; Ansari, Morad ; Chapman, Heather M ; Cooper, David N ; Dabir, Tabib ; Dudley, Jeffrey N ; Holt, Richard J ; Ragge, Nicola K ; Schäffer, Alejandro A ; Sen, Shurjo K ; Slavotinek, Anne M ; FitzPatrick, David R ; Glaser, Thomas M ; Stewart, Fiona ; Black, Graeme CM ; Biesecker, Leslie GJournal of medical genetics, 2019-07, Vol.56 (7), p.444-452 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
7 |
Material Type: Artigo
|
![]() |
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismAnsari, Morad ; Poke, Gemma ; Ferry, Quentin ; Williamson, Kathleen ; Aldridge, Roland ; Meynert, Alison M ; Bengani, Hemant ; Chan, Cheng Yee ; Kayserili, Hülya ; Avci, Şahin ; Hennekam, Raoul C M ; Lampe, Anne K ; Redeker, Egbert ; Homfray, Tessa ; Ross, Alison ; Falkenberg Smeland, Marie ; Mansour, Sahar ; Parker, Michael J ; Cook, Jacqueline A ; Splitt, Miranda ; Fisher, Richard B ; Fryer, Alan ; Magee, Alex C ; Wilkie, Andrew ; Barnicoat, Angela ; Brady, Angela F ; Cooper, Nicola S ; Mercer, Catherine ; Deshpande, Charu ; Bennett, Christopher P ; Pilz, Daniela T ; Ruddy, Deborah ; Cilliers, Deirdre ; Johnson, Diana S ; Josifova, Dragana ; Rosser, Elisabeth ; Thompson, Elizabeth M ; Wakeling, Emma ; Kinning, Esther ; Stewart, Fiona ; Flinter, Frances ; Girisha, Katta M ; Cox, Helen ; Firth, Helen V ; Kingston, Helen ; Wee, Jamie S ; Hurst, Jane A ; Clayton-Smith, Jill ; Tolmie, John ; Vogt, Julie ; Tatton–Brown, Katrina ; Chandler, Kate ; Prescott, Katrina ; Wilson, Louise ; Behnam, Mahdiyeh ; McEntagart, Meriel ; Davidson, Rosemarie ; Lynch, Sally-Ann ; Sisodiya, Sanjay ; Mehta, Sarju G ; McKee, Shane A ; Mohammed, Shehla ; Holden, Simon ; Park, Soo-Mi ; Holder, Susan E ; Harrison, Victoria ; McConnell, Vivienne ; Lam, Wayne K ; Green, Andrew J ; Donnai, Dian ; Bitner-Glindzicz, Maria ; Donnelly, Deirdre E ; Nellåker, Christoffer ; Taylor, Martin S ; FitzPatrick, David RJournal of medical genetics, 2014-10, Vol.51 (10), p.659-668 [Periódico revisado por pares]England: BMJ Publishing Group LTDTexto completo disponível |
8 |
Material Type: Artigo
|
![]() |
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeKoolen, D A ; Sharp, A J ; Hurst, J A ; Firth, H V ; Knight, S J L ; Goldenberg, A ; Saugier-Veber, P ; Pfundt, R ; Vissers, L E L M ; Destrée, A ; Grisart, B ; Rooms, L ; Van der Aa, N ; Field, M ; Hackett, A ; Bell, K ; Nowaczyk, M J M ; Mancini, G M S ; Poddighe, P J ; Schwartz, C E ; Rossi, E ; De Gregori, M ; Antonacci-Fulton, L L ; McLellan, M D ; Garrett, J M ; Wiechert, M A ; Miner, T L ; Crosby, S ; Ciccone, R ; Willatt, L ; Rauch, A ; Zenker, M ; Aradhya, S ; Manning, M A ; Strom, T M ; Wagenstaller, J ; Krepischi-Santos, A C ; Vianna-Morgante, A M ; Rosenberg, C ; Price, S M ; Stewart, H ; Shaw-Smith, C ; Brunner, H G ; Wilkie, A O M ; Veltman, J A ; Zuffardi, O ; Eichler, E E ; de Vries, B B AJournal of medical genetics, 2008-11, Vol.45 (11), p.710-720 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
9 |
Material Type: Artigo
|
![]() |
Closing the case of APOE in multiple sclerosis: no association with disease risk in over 29 000 subjectsLill, Christina M ; Liu, Tian ; Schjeide, Brit-Maren M ; Roehr, Johannes T ; Akkad, Denis A ; Damotte, Vincent ; Alcina, Antonio ; Ortiz, Miguel A ; Arroyo, Rafa ; Lopez de Lapuente, Aitzkoa ; Blaschke, Paul ; Winkelmann, Alexander ; Gerdes, Lisa-Ann ; Luessi, Felix ; Fernadez, Oscar ; Izquierdo, Guillermo ; Antigüedad, Alfredo ; Hoffjan, Sabine ; Cournu-Rebeix, Isabelle ; Gromöller, Silvana ; Faber, Hans ; Liebsch, Maria ; Meissner, Esther ; Chanvillard, Coralie ; Touze, Emmanuel ; Pico, Fernando ; Corcia, Philippe ; Dörner, Thomas ; Steinhagen-Thiessen, Elisabeth ; Baeckman, Lars ; Heekeren, Hauke R ; Li, Shu-Chen ; Lindenberger, Ulman ; Chan, Andrew ; Hartung, Hans-Peter ; Aktas, Orhan ; Lohse, Peter ; Kümpfel, Tania ; Kubisch, Christian ; Epplen, Joerg T ; Zettl, Uwe K ; Fontaine, Bertrand ; Vandenbroeck, Koen ; Matesanz, Fuencisla ; Urcelay, Elena ; Bertram, Lars ; Zipp, FraukeJournal of medical genetics, 2012-09, Vol.49 (9), p.558-562 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
10 |
Material Type: Artigo
|
![]() |
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcomevan Bon, B.W.M ; Mefford, H.C ; Menten, B ; Koolen, D.A ; Sharp, A.J ; Nillesen, W.M ; Innis, J.W ; de Ravel de l'Argentière, Thomy ; Mercer, C.L ; Fichera, M ; Stewart, H ; Connell, L.E ; Ounap, K ; Lachlan, K ; Castle, B ; Van der Aa, N ; van Ravenswaaij, C ; Nobrega, M.A ; Serra-Juhé, C ; Simonic, I ; de Leeuw, N ; Pfundt, R ; Bongers, E.M ; Baker, C ; Finnemore, P ; Huang, S ; Maloney, V.K ; Crolla, J.A ; van Kalmthout, M ; Elia, M ; Vandeweyer, G ; Fryns, Jean-Pierre ; Janssens, S ; Foulds, N ; Reitano, S ; Smith, K ; Parkel, S ; Loeys, B ; Woods, C.G ; Oostra, A ; Speleman, F ; Pereira, A.C ; Kurg, A ; Willatt, L ; Knight, S.J.L ; Vermeesch, Joris ; Romano, C ; Barber, J.C ; Mortier, G ; Pérez-Jurado, L.A ; Kooy, F ; Brunner, H.G ; Eichler, E.E ; Kleefstra, T ; de Vries, B.B.AJournal of Medical Genetics, 2009-08, Vol.46 (8), p.511-523 [Periódico revisado por pares]BMJ Publishing GroupTexto completo disponível |