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TITLE: IMPACT OF HIGH BODY MASS INDEX IN NONINVASIVE PRENATAL TESTING  Full Text
AUTHORS: Pires, Luis Miguel; Oliveiros, Barbara; Val, Mariana; Ferreira, Susana Isabel; Lavoura, Nuno; Ramos, Fabiana; Galhano, Eulalia; Melo, Joana Barbosa; Carreira, Isabel Marques;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
2
TITLE: COPY NUMBER VARIATIONS DETECTED BY ARRAY COMPARATIVE GENOMIC HYBRIDIZATION IN FETUSES WITH CARDIAC DEFECTS  Full Text
AUTHORS: Val, Mariana; Sá, Susana I ; Pires, Luis M.; Mascarenhas, Alexandra; Carreira, Isabel M.; Melo, Joana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: TEMPLE SYNDROME BY 14(Q32) DELETION DETECTED PRENATALLY BY ARRAY-CGH  Full Text
AUTHORS: Sá, Susana I ; Pires, Luis Miguel; Val, Mariana; Mascarenhas, Alexandra; Oliveira, Daniela; Ramos, Fabiana; Carreira, Isabel Marques; de Melo, Joana Barbosa;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
4
TITLE: MATERNAL DELETION ENCOMPASSING EXONS 4 TO 7 OF THE UBE3A GENE IN A FAMILY WITH ANGELMAN SYNDROME CONFIRMED BY MLPA  Full Text
AUTHORS: Pires, Luis Miguel; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Sa, Joaquim; Sousa, Sergio; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: HOMOZYGOUS DELETION OF THE PRODH GENE RELATED TO TYPE I HYPERPROLINEMIA  Full Text
AUTHORS: Veiga, Pedro; Ferreira, Susana I.; Val, Mariana; Ramos, Fabiana; Carreira, Isabel M.; Melo, Joana B.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: Detection of copy number variations in the genome of fetus with ultrasound abnormalities  Full Text
AUTHORS: Mariana Val; Susana I Ferreira; Luis M Pires; Nuno Lavoura; Joana Barbosa de Melo; Isabel Carreira;
PUBLISHED: 2020, SOURCE: CIMAGO Meeting - Challenges in Oncobiology in MEDICINE, VOLUME: 99, ISSUE: 23
INDEXED IN: WOS