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TITLE: A unique phenotype in a patient with a rare triplication of the 22q11.2 region and new clinical insights of the 22q11.2 microduplication syndrome: a report of two cases  Full Text
AUTHORS: Sara O Vaz; Renato Pires; Luis M Pires ; Isabel M Carreira; Rui Anjos; Paula Maciel; Luisa Mota Vieira;
PUBLISHED: 2015, SOURCE: BMC PEDIATRICS, VOLUME: 15, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 5
IN MY: ORCID
123
TITLE: Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
AUTHORS: Ana Beleza Meireles; Rachel Hart; Jill Clayton Smith; Renata Oliveira; Claudia Falcao Reis; Margarida Venancio; Fabiana Ramos; Joaquim Sa; Lina Ramos; Elizabete Cunha; Luis Miguel Pires; Isabel Marques Carreira; Rachel Scholey; Ronnie Wright; Jill E Urquhart; Tracy A Briggs; Bronwyn Kerr; Helen Kingston; Kay Metcalfe; Dian Donnai; William G Newman; Jorge Manuel Saraiva; May Tassabehji; ...More
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF MEDICAL GENETICS, VOLUME: 58, ISSUE: 9
INDEXED IN: Scopus WOS
IN MY: ORCID
124
TITLE: Impact of fetal chromosomal disorders on maternal blood metabolome: toward new biomarkers?
AUTHORS: Pinto, J; Almeida, LM; Martins, AS; Duarte, D; Domingues, MRM; Barros, AS ; Galhano, E; Pita, C; Almeida, MD; Carreira, IM; Gil, AM;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, VOLUME: 213, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 18 Handle
IN MY: ORCID
125
TITLE: Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients
AUTHORS: Ana Beleza-Meireles; Rachel Hart; Jill Clayton-Smith; Renata Oliveira; Cláudia Falcão Reis; Margarida Venâncio; Fabiana Ramos; Joaquim Sá; Lina Ramos; Elizabete Cunha; Luís Miguel Pires ; Isabel Marques Carreira; Rachel Scholey; Ronnie Wright; Jill E Urquhart; Tracy A Briggs; Bronwyn Kerr; Helen Kingston; Kay Metcalfe; Dian Donnai; William G Newman; Jorge Manuel Saraiva; May Tassabehji; ...More
PUBLISHED: 2015, SOURCE: European Journal of Medical Genetics, VOLUME: 58, ISSUE: 9
INDEXED IN: CrossRef
IN MY: ORCID
127
TITLE: Molecular characterization of prenatally detected small supernumerary marker chromosomes: improving the genotype-phenotype correlations  Full Text
AUTHORS: Isabel Marques Carreira; Marta Coelho Pinto; Ana Jardim; Susana Isabel Ferreira; Lucia Simoes; Nuno Lavoura; Alexandra Mascarenhas; Eulalia Galhano; Helena Goncalves; Fabiana Ramos; Joana Barbosa Melo;
PUBLISHED: 2015, SOURCE: CHROMOSOME RESEARCH, VOLUME: 23
INDEXED IN: WOS
129
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
130
TITLE: Iodine deficiency and thyroid nodular pathology - Epidemiological and cancer characteristics in different populations: Portugal and South Africa  Full Text
AUTHORS: José Eduardo Carvalho Santos; William John Kalk; Miguel Freitas; Isabel Marques Carreira; Miguel Castelo Branco;
PUBLISHED: 2015, SOURCE: BMC Research Notes, VOLUME: 8, ISSUE: 1
INDEXED IN: Scopus
IN MY: ORCID
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