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Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 21
DataTítuloAutor(es)TipoAcesso
2016Molecular Characterization of a Rare Analphoid Supernumerary Marker Chromosome Derived from 7q35 → qter: A Case ReportMarques, B; Ferreira, C; Brito, F; Pedro, S; Alves, C; Lourenço, T; Amorim, M; Correia, HarticleopenAccess
Nov-2015Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 FamiliesNabais Sá, MJ; Sampaio, S; Oliveira, A; Alves, S; Moura, CP; Silva, SE; Castro, R; Araújo, JA; Rodrigues, M; Neves, F; Seabra, J; Soares, C; Gaspar, MA; Tavares, I; Freitas, L; Sousa, TC; Henriques, AC; Costa, FT; Morgado, E; Sousa, FT; Sousa, JP; da Costa, AG; Filipe, R; Garrido, J; Montalban, J; Ponce, P; Alves, R; Faria, B; Carvalho, MF; Pestana, M; Carvalho, F; Oliveira, JParticleopenAccess
Mar-2012Mutations in CTC1, Encoding Conserved Telomere Maintenance Component 1, Cause Coats PlusAnderson, B; Kasher, P; Mayer, J; Szynkiewicz, M; Jenkinson, E; Bhaskar, S; Urquhart, J; Daly, S; Dickerson, J; O'Sullivan, J; Leibundgut, E; Muter, J; Abdel-Salem, G; Babul-Hirji, R; Baxter, P; Berger, A; Bonafé, L; Brunstom-Hernandez, J; Buckard, J; Chitayat, D; Chong, W; Cordelli, D; Ferreira, P; Fluss, J; Forrest, E; Franzoni, E; Garone, C; Hammans, S; Houge, G; Hughes, I; Jacquemont, S; Jeannet, P; Jefferson, R; Kumar, R; Kutschke, G; Lundberg, S; Lourenço, C; Mehta, R; Naidu, S; Nischal, K; Nunes, L; Ounap, K; Philippart, M; Prabhakar, P; Risen, S; Schiffmann, R; Soh, C; Stephenson, J; Stewart, H; Stone, J; Tolmie, J; van der Knaap, M; Vieira, JP; Vilain, C; Wakeling, E; Wermenbol, V; Whitney, A; Lovell, S; Meyer, S; Livingston, J; Baerlocher, G; Black, G; Rice, G; Crow, YarticleopenAccess
Jan-2009Mutations in the MECP2 Gene Are Not a Major Cause of Rett Syndrome-Like or Related Neurodevelopmental Phenotype in Male PatientsSantos, M; Temudo, T; Kay, T; Carrilho, I; Medeira, A; Cabral, H; Gomes, R; Lourenço, T; Venâncio, M; Calado, E; Moreira, A; Oliveira, G; Maciel, ParticleopenAccess
Abr-2015Urinary Tract Effects of HPSE2 MutationsStuart, H; Roberts, N; Hilton, E; McKenzie, E; Daly, S; Hadfield, K; Rahal, J; Gardiner, N; Tanley, S; Lewis, M; Sites, E; Angle, B; Alves, C; Lourenço, T; Rodrigues, M; Calado, A; Amado, M; Guerreiro, N; Serras, I; Beetz, C; Varga, R; Silay, M; Darlow, J; Dobson, M; Barton, D; Hunziker, M; Puri, P; Feather, S; Goodship, J; Goodship, T; Lambert, H; Cordell, H; Saggar, A; Kinali, M; Lorenz, C; Moeller, K; Schaefer, F; Bayazit, A; Weber, S; Newman, W; Woolf, AarticleopenAccess
Out-2010Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-Related PhenotypesCoppieters, F; Casteels, I; Meire, F; De Jaegere, S; Hooghe, S; van Regemorter, N; Van Esch, H; Matuleviciene, A; Nunes, L; Meersschaut, V; Walraedt, S; Standaert, L; Coucke, P; Hoeben, H; Kroes, H; Vande Walle, J; de Ravel, T; Leroy, B; De Baere, EarticleopenAccess
2011Clinical and Molecular Characterization of Diastrophic Dysplasia in the Portuguese PopulationBarbosa, M; Sousa, AB; Medeira, A; Lourenço, T; Saraiva, J; Pinto-Basto, J; Soares, G; Fortuna, AM; Superti-Furga, A; Mittaz, L; Reis-Lima, M; Bonafé, LarticleopenAccess
2015Mitchell-Riley Syndrome: A Novel Mutation in RFX6 GeneAmorim, M; Houghton, J; Carmo, S; Salva, I; Pita, A; Pereira-da-Silva, LarticleopenAccess
Abr-2004Leber Congenital Amaurosis: Comprehensive Survey of the Genetic Heterogeneity, Refinement of the Clinical Definition, and Genotype-Phenotype Correlations as a Strategy for Molecular DiagnosisHanein, S; Perrault, I; Gerber, S; Tanguy, G; Barbet, F; Ducroq, D; Calvas, P; Dollfus, H; Hamel, C; Lopponen, T; Munier, F; Santos, L; Shalev, S; Zafeiriou, D; Dufier, JL; Munnich, A; Rozet, JM; Kaplan, JarticleopenAccess
2014A Case of Late-Diagnosed Ovotesticular Disorder of Sex DevelopmentKnoblich, M; Pratas Vital, V; Cardoso, D; Alves, F; Catela Mota, F; Lopes, L; Kay, T; Casella, ParticleopenAccess
2013Multiple Haemangiomas, Diaphragmatic Eventration and Beckwith-Wiedemann Syndrome: An Unusual AssociationFrancisco, T; Gonçalves, RM; Borges, C; Neto, MTarticleopenAccess
2012A Síndrome de Smith-Lemli-Opitz: Características Fenotípicas e Genotípicas dos Doentes PortuguesesCardoso, ML; Bandeira, A; Lopes, A; Rodrigues, M; Venâncio, M; Sales Marques, J; Janeiro, P; Ferreira, I; Quelhas, D; Sequeira, S; Soares, G; Lourenço, T; Rodrigues, R; Gaspar, A; Nunes, L; Marques, F; Martins, EarticleopenAccess
2013A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal DysplasiaHu, Y; Chen, I; Almeida, S; Tiziani, V; Amaral, C; Gowrishankar, K; Passos-Bueno, MR; Reichenberger, EarticleopenAccess
2000The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish InquisitionGerber, S; Rozet, JM; Takezawa, S; Coutinho dos Santos, L; Lopes, L; Gribouval, O; Penet, C; Perrault, I; Ducroq, D; Souied, E; Jeanpierre, M; Romana, S; Frézal, J; Ferraz, F; Yu-Umesono, R; Munnich, A; Kaplan, JarticleopenAccess
2013Deletions within COL11A1 in Type 2 Stickler Syndrome Detected by Multiplex Ligation - Syndrome Detected by Multiplex Ligation Dependent Probe Amplification (MLPA)Vijzelaar, R; Waller, S; Errami, A; Donaldson, A; Lourenço, T; Rodrigues, M; McConnell, V; Fincham, G; Snead, M; Richards, AarticleopenAccess
2013Birt-Hogg-Dubé SyndromeLencastre, A; Ponte, P; Apetato, M; Nunes, L; Lestre, SarticleopenAccess
2008Macrossomia, Hipersomnia e Alteração do Controlo da Temperatura: Disfunção Hipotalâmica de Causa DesconhecidaJacinto, S; Silva, R; Lopes, P; Nunes, L; Romão, G; Calado, EarticleopenAccess
2009Síndrome de Alström: Quatro CasosMelo, A; Santa Marta, I; Kay, T; Lourenço, T; Xavier, A; Pina, R; Lopes, L; Fonseca, GarticleopenAccess
2013Mosaic Trisomy 18 in a Five-Month-Old Infant - Case ReportFitas, AL; Paiva, M; Cordeiro, AI; Nunes, L; Cordeiro Ferreira, GarticleopenAccess
2009Pancreatite Hereditária na CriançaFreira, S; Lourenço, T; Cerqueira, R; Tavares, P; Pereira, G; Barata, D; Cabral, JarticleopenAccess
Items da Coleção (Ordenados por Data de depósito em ordem descendente): 1 até 20 de 21