12
TITLE: Is haploinsufficiency of SRPK2 gene associated with developmental delay? Report of a de novo 7q22.1q22.3 interstitial deletion  Full Text
AUTHORS: Marta Pinto; Susana Isabel Ferreira; Nuno Lavoura; Alexandra Mascarenhas; Ana Jardim; Ana Beleza Meireles; Isabel Marques Carreira; Joana Barbosa Melo;
PUBLISHED: 2013, SOURCE: CHROMOSOME RESEARCH, VOLUME: 21
INDEXED IN: WOS
14
TITLE: Copy number variants, how defensive can it be?  Full Text
AUTHORS: Num Lavoura; Alexandra Mascarenhas; Jose Ferrao; Eulalia Galhano; Ana Isabel Rei; Margarida Venancio; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
15
TITLE: Prenatal diagnosis of a complex rearrangement involving three inversions and two duplications on chromosome 17  Full Text
AUTHORS: Alexandra Mascarenhas; Luis Miguel Pires; Marta Coelho Pinto; Lucia Simoes; Eunice Matoso; Joana B Melo; Isabel Carreira;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS
Page 2 of 2. Total results: 15.