41
TITLE: Next-Gen Cytogenetics and the Hidden Complexity of Genomic or Chromosomal Rearrangements
AUTHORS: Dezső David; João Freixo; Inês Carvalho; Natalia Tkachenko; Natália Oliva Teles; Bárbara Marques; Ana C Alves; Ana Fortuna; Dória Sofia ; Carla Pinto de Moura; Isabel Gaspar; Isabel Marques Carreira; Joaquim Sá; Rui Gonçalves; João Lavinha; Teresa Kay; Hildeberto Correia; Michael E Talkowski; Cynthia C Morton;
PUBLISHED: 2015, SOURCE: 19ª Reunião da Sociedade Portuguesa de Genética Humana, 5-7 novembro 2015
INDEXED IN: Handle
42
TITLE: Prevalence of Chromosomal Abnormalities in Spontaneous Abortions or Fetal Deaths  Full Text
AUTHORS: Raquel Bastos; Ramalho C ; Sofia Doria ;
PUBLISHED: 2014, SOURCE: ACTA MEDICA PORTUGUESA, VOLUME: 27, ISSUE: 1
INDEXED IN: WOS
44
TITLE: Relevance of genomic imprinting in intrauterine human growth expression of CDKN1C, H19, IGF2, KCNQ1 and PHLDA2 imprinted genes  Full Text
AUTHORS: Amilcar Cordeiro ; Ana P Paula Neto; Filipa Carvalho ; Ramalho C ; Sofia Doria ;
PUBLISHED: 2014, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 31, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 41
45
TITLE: Treatment by testicular sperm extraction and intracytoplasmic sperm injection of 65 azoospermic patients with non-mosaic Klinefelter syndrome with birth of 17 healthy children  Full Text
AUTHORS: Madureira, C; Cunha, M; Sousa, M ; Neto, AP; Pinho, MJ; Viana, P; Goncalves, A; Silva, J; Teixeira da Silva, JT; Oliveira, C; Ferraz, L; Doria, S ; Carvalho, F ; Barros, A ;
PUBLISHED: 2014, SOURCE: ANDROLOGY, VOLUME: 2, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef: 57
46
TITLE: Inv21p12q22del21q22 and intellectual disability  Full Text
AUTHORS: Renata Oliveira; Sofia Doria ; Carmen Madureira; Vera Lima ; Carolina Almeida ; Maria J Pinho; Ramalho C ; Eunice Matoso; Alberto Barros ; Isabel M Carreira ; Carla Pinto Moura ;
PUBLISHED: 2013, SOURCE: GENE, VOLUME: 517, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef
47
TITLE: Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication
AUTHORS: Joao Rocha; Catia Guerra; Renata Oliveira; Sofia Doria ; Ricardo Rego; Maria Jose Rosas;
PUBLISHED: 2012, SOURCE: EPILEPTIC DISORDERS, VOLUME: 14, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 9
48
TITLE: Normal sperm in a 2;2 homologous male translocation carrier  Full Text
AUTHORS: Carolina Almeida ; Sofia Doria ; Maria Moreira; Joel Pinto; Alberto Barros ;
PUBLISHED: 2012, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 29, ISSUE: 7
INDEXED IN: Scopus WOS CrossRef: 2
49
TITLE: A unique case of a balanced translocation between homologous chromosomes t(2;2)(p23;q21.3) in an infertile man  Full Text
AUTHORS: Sofia Doria ; Maria Lina Moreira; Carolina Almeida ; Joel Pinto; Alberto Barros;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
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