ProfileOfResearchers

TITLE: LOW COVERAGE DEPTH NANOPORE SEQUENCING IS AN ALTERNATIVE TO GENOMIC MICROARRAYS FOR DETECTION OF COPY NUMBER VARIANTS IN THE HUMAN GENOME Full Text
AUTHORS: Silva, Catarina; Ferrao, Jose; Marques, Barbara; Pedro, Sonia; Correia, Hildeberto; Rodrigues, Antonio S.; Vieira, Luis;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13

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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

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WOS

TITLE: Implementation of Exome Sequencing in Prenatal Diagnosis and Impact on Genetic Counseling: The Polish Experience Full Text
AUTHORS: Kucinska Chahwan, Anna; Geremek, Maciej; Roszkowski, Tomasz; Bijok, Julia; Massalska, Diana; Ciebiera, Michal; Correia, Hildeberto; Pereira Caetano, Iris; Barreta, Ana; Obersztyn, Ewa; Kutkowska Kazmierczak, Anna; Wlasienko, Pawel; Krajewska Walasek, Malgorzata; Wegrzyn, Piotr; Dudarewicz, Lech; Krzeszowski, Waldemar; Rybak Krzyszkowska, Magda; Nowakowska, Beata;
PUBLISHED: 2022, SOURCE: GENES, VOLUME: 13, ISSUE: 5

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Scopus

WOS

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

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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

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TITLE: Chorionic villus sampling: 10 years of experience in a University referral center
AUTHORS: Ana Teresa Martins; Carla Francisco; Hildeberto Correia; Alvaro Cohen;
PUBLISHED: 2020, SOURCE: JOURNAL OF GYNECOLOGY OBSTETRICS AND HUMAN REPRODUCTION, VOLUME: 49, ISSUE: 5

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Scopus

WOS