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TITLE: REPORT OF A RARE 18P11.32P11.21 TERMINAL DELETION IN A FETUS WITH MULTIPLE ANOMALIES  Full Text
AUTHORS: Simao, Laurentino R.; Serafim, Silvia S.; Pedro, Sonia I.; Silva, Marisa D.; Ferreira, Cristina M.; Brito, Filomena T.; Tarelho, Ana R.; Alves, Ana C.; Viegas, Monica D.; Peliano, Ricardo C.; Bernardo, Ana S. ; Carvalho, Ines S. ; Cohen, Alvaro E.; Marques, Barbara S.; Correia, Hildeberto O.;
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: REPORT OF A RARE 16Q23.1Q23.2 INTERSTITIAL DELETION IN A GIRL WITH MULTIPLE ANOMALIES  Full Text
AUTHORS: Simao, Laurentino; Marques, Barbara S.; Serafim, Silvia S.; Alves, Ana C.; Pedro, Sonia I.; Brito, Filomena T.; Ferreira, Cristina M.; Peliano, Ricardo C.; Silva, Marisa D.; Baptista, Teresa C.; Quintal, Idolinda; Tomas, Edite; Cascais, Ines F.; Correia, Hildeberto O.;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: Trisomy 15 mosaicism: Challenges in prenatal diagnosis  Full Text
AUTHORS: Marisa Silva; Cristina Alves; Sonia Pedro; Barbara Marques; Cristina Ferreira; Jose Furtado; Ana Teresa Martins; Rosario Fernandes; Joaquim Correia; Hildeberto Correia;
PUBLISHED: 2015, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 167, ISSUE: 11
INDEXED IN: Scopus WOS CrossRef: 5
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TITLE: Discordant Chromosome Placental Mosaicism in a Dichorionic Twin Pregnancy  Full Text
AUTHORS: Marisa Silva; Paula Caetano; Vanessa Olival; Cristina Alves; Laurentino Simao; Cristina Ferreira; Barbara Marques; Jose Furtado; Catarina Ventura; Sergio Soares; Hildeberto Correia;
PUBLISHED: 2013, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 161A, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef
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TITLE: Hb Yaounde [beta 134(H12)Val -> Ala] in association with Hb C [beta 6(A3)Glu -> Lys] in a Caucasian Portuguese family  Full Text
AUTHORS: Faustino, P ; Miranda, A; Silva, MD; Alves, C; Pinanco, I; Ferreira, C; Seixas, MT; Pina, F; Romao, L ;
PUBLISHED: 2004, SOURCE: HEMOGLOBIN, VOLUME: 28, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef