Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 21
| Issue Date | Title | Author(s) | Type | Access Type |
| 2014 | Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample" | Saraiva, JM | article |  |
| 2015 | Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients | Carreira, IM; Ferreira, SI; Matoso, E; Pires, LM; Ferrão, J; Jardim, A; Mascarenhas, A; Pinto, M; Lavoura, N; Pais, C; Paiva, P; Simões, L; Caramelo, F; Ramos, L; Venâncio, M; Ramos, F; Beleza, A; Sá, J; Saraiva, J; Barbosa de Melo, J | article | |
| 6-Nov-2014 | Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome | Thomas, AC; Williams, H; Setó-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; Ishida, M; Ocaka, L; Chanudet, E; James, C; Lescai, F; Anderson, G; Morrogh, D; Ryten, M; Duncan, AJ; Pai, YJ; Saraiva, JM; Ramos, F; Farren, B; Saunders, D; Vernay, B; Gissen, P; Straatmaan-Iwanowska, A; Baas, F; Wood, NW; Hersheson, J; Houlden, H; Hurst, J; Scott, R; Bitner-Glindzicz, M; Moore, GE; Sousa, SB; Stanier, P | article | |
| Jan-2014 | Intellectual disability, coarse face, relative macrocephaly, and cerebellar hypotrophy in two sisters | Sousa, SB; Ramos, F; Garcia, P; Pais, RP; Paiva, C; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RC | article | |
| 2014 | Regarding the article "Adults with Down syndrome: characterization of a Portuguese sample" | Saraiva, JM | article | |
| Oct-2014 | Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update | Beleza-Meireles, AF; Clayton-Smith, J; Saraiva, JM; Tassabehji, M | article | |
| 2010 | Dilated fetal bowel as indication for prenatal diagnosis of cystic fibrosis | Soares, R; Neto, P; Pereira, N; Cunha, C; Pinto, C; Fonseca, M; Ramos, L; Galhano, E | article | |
| 2013 | Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome | Sousa, SB; Jenkins, D; Chanudet, E; Tasseva, G; Ishida, M; Anderson, G; Docker, J; Ryten, M; Sá, J; Saraiva, JM; Barnicoat, A; Scott, R; Calder, A; Wattanasirichaigoon, D; Chrzanowska, K; Simandlová, M; Van Maldergem, L; Stanier, P; Beales, PL; Vance, JE; Moore, GE | article | |
| 2013 | Intellectual disability, unusual facial morphology and hand anomalies in sibs | Sousa, SB; Venâncio, M; Chanudet, E; Palmer, R; Ramos, L; Beales, PL; Moore, GE; Saraiva, JM; Hennekam, RC | article | |
| 2013 | Description of an autosomal dominant form of Kabuki syndrome by mutation in MLL2 gene | Santos, MI; Beleza-Meireles, A; Loureiro, S; Fonseca, M; Reis, CF; Rodrigues, F; Ramos, F; Ramos, L; Cardoso, E; Saraiva, JM | article | |
| 2012 | Inv21p12q22del21q22 and intellectual disability | Oliveira, R; Dória, S; Madureira, C; Lima, V; Almeida, C; Pinho, MJ; Ramalho, C; Matoso, E; Barros, A; Carreira, IM; Moura, CP | article | |
| 2012 | Avaliação e Investigação Etiológica do Atraso do Desenvolvimento Psicomotor / Défice Intelectual | Oliveira, R; Rodrigues, F; Venâncio, M; Saraiva, JM; Fernandes, B | article | |
| 2013 | Juvenile polyposis of infancy in a child with deletion of BMPR1A and PTEN genes: Surgical approach | Oliveira, PH; Cunha, C; Almeida, S; Ferreira, R; Maia, S; Saraiva, JM; Lopes, MF | article | |
| 2013 | Non-syndromic Sensorineural Prelingual Deafness: The Importance of Genetic Counseling in Demystifying Parents’ Beliefs About the Cause of Their Children’s Deafness | Rodrigues, F; Paneque, M; Reis, C; Venâncio, M; Sequeiros, J; Saraiva, JM | article | |
| 2012 | Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? | Morimoto, M; Yu, Z; Stenzel, P; Clewing, JM; Najafian, B; Mayfield, C; Hendson, G; Weinkauf, JG; Gormley, AK; Saraiva, JM | article | |
| 2011 | Hiperplasia congénita da supra-renal: quando o mesmo genótipo tem diferentes fenótipos | Cordinhã, C; Morais, S; Cardoso, R; Ramos, L; Taborda, A; Mirante, A | article | |
| 1999 | Schimke immuno-osseous dysplasia: case report and review of 25 patients | Saraiva, JM; Dinis, A; Resende, C; Faria, E; Gomes, C; Correia, AJ; Gil, J; Fonseca, N | article | |
| 2009 | Dual use of Diff-Quik-like stains for the simultaneous evaluation of human sperm morphology and chromatin status | Sousa, AP; Tavares, RS; Velez de la Calle, JF; Figueiredo, H; Almeida, V; Almeida-Santos, T; Ramalho-Santos, J | article | |
| 2002 | Analysis of human spermatozoa by fluorescence in situ hybridization with preservation of the head morphology is possible by avoiding a decondensation treatment | Almeida-Santos, T; Dias, C; Brito, R; Henriques, P; Almeida-Santos, A | article | |
| 2003 | Cytogenetic analysis of spontaneously activated noninseminated oocytes and parthenogenetically activated failed fertilized human oocytes--implications for the use of primate parthenotes for stem cell production | Almeida-Santos, T; Dias, C; Henriques, P; Brito, R; Barbosa, A; Regateiro, FJ; Almeida-Santos, A | article | - |
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 21
