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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
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TITLE: Small deletion in the CREBBP gene detected in a fetus with short long bones, abducted thumbs and nuchal edema
AUTHORS: Serafim, Silvia; Marques, Barbara; Pedro, Sonia; Tarelho, Ana R.; Ferreira, Cristina; Simao, Laurentino; Alves, Cristina; Silva, Marisa; Furtado, Jose; Rangel, Sara; Peliano, Ricardo; Silva, Neuza; Brito, Filomena; Carvalho, Ines; Bernardo, Ana; Cohen, Alvaro; Correia, Hildeberto;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
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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: 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: Prenatal diagnosis of terminal 11q deletion  Full Text
AUTHORS: Laurentino Simao; Filomena Brito; Marisa Silva; Barbara Marques; Jose Furtado; Catarina Ventura; Paula Caetano; Ivone Dias; Hildeberto Correia;
PUBLISHED: 2011, SOURCE: CHROMOSOME RESEARCH, VOLUME: 19
INDEXED IN: WOS