Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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TBX22 mutations are a frequent cause of cleft palateAna Carolina Braga Marçano K Doudney; C Braybrook; R Squires; M. A Patton; M. M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; G.E Moore; P StanierJournal of Medical Genetics v. 41, n. 1, p. 68-74, Jan. 2004London 2004Item não circula. Consulte sua biblioteca.(Acessar) |
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2 |
Material Type: Artigo
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TBX22 mutations are a frequent cause of cleft palateAna Carolina Braga Marçano K Doudney; C Braybrook; R Squires; M. A Patton; M. M Lees; Antonio Richieri-Costa; Andrew C Lidral; Jeffrey C Murray; G.E Moore; P StanierJournal of Medical Genetics v. 41, n. 1, p. 68-74, Jan. 2004London 2004Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Robinow syndromePatton, M A ; Afzal, A RJournal of medical genetics, 2002-05, Vol.39 (5), p.305-310 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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4 |
Material Type: Artigo
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TBX22 mutations are a frequent cause of cleft palateMarçano, A C B ; Doudney, K ; Braybrook, C ; Squires, R ; Patton, M A ; Lees, M M ; Richieri-Costa, A ; Lidral, A C ; Murray, J C ; Moore, G E ; Stanier, PJournal of medical genetics, 2004-01, Vol.41 (1), p.68-74 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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5 |
Material Type: Artigo
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A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)Heathcote, Kirsten ; Syrris, Petros ; Carter, Nicholas D ; Patton, Michael AJournal of medical genetics, 2000-01, Vol.37 (1), p.50-51 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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6 |
Material Type: Artigo
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative studyRyan, A K ; Goodship, J A ; Wilson, D I ; Philip, N ; Levy, A ; Seidel, H ; Schuffenhauer, S ; Oechsler, H ; Belohradsky, B ; Prieur, M ; Aurias, A ; Raymond, F L ; Clayton-Smith, J ; Hatchwell, E ; McKeown, C ; Beemer, F A ; Dallapiccola, B ; Novelli, G ; Hurst, J A ; Ignatius, J ; Green, A J ; Winter, R M ; Brueton, L ; Brøndum-Nielsen, K ; Scambler, P JJournal of medical genetics, 1997-10, Vol.34 (10), p.798-804 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Outcome of chromosomally normal livebirths with increased fetal nuchal translucency at 10-14 weeks' gestationBrady, A F ; Pandya, P P ; Yuksel, B ; Greenough, A ; Patton, M A ; Nicolaides, K HJournal of medical genetics, 1998-03, Vol.35 (3), p.222-224 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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8 |
Material Type: Artigo
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Clinical and molecular findings in a patient with a deletion on the long arm of chromosome 12Brady, A F ; Elsawi, M M ; Jamieson, C R ; Marks, K ; Jeffery, S ; Patton, M A ; Murtaza, L ; Savage, M OJournal of medical genetics, 1999-12, Vol.36 (12), p.939-941 [Periódico revisado por pares]England: BMJ GroupTexto completo disponível |
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9 |
Material Type: Artigo
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Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2, DCN, EPS8, and RPL6Ion, A ; Crosby, A H ; Kremer, H ; Kenmochi, N ; Van Reen, M ; Fenske, C ; Van Der Burgt, I ; Brunner, H G ; Montgomery, K ; Kucherlapati, R S ; Patton, M A ; Page, C ; Mariman, E ; Jeffery, SJournal of medical genetics, 2000-11, Vol.37 (11), p.884-886 [Periódico revisado por pares]England: BMJ GroupTexto completo disponível |
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10 |
Material Type: Artigo
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Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24Harrar, H S ; Jeffery, S ; Patton, M AJournal of medical genetics, 1995-10, Vol.32 (10), p.774-777 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |