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TITLE: THE CHALLENGE OF SOMATIC VARIANTS IN FOCAL CORTICAL DYSPLASIA: A CASE REPORT  Full Text
AUTHORS: Jesus Ribeiro, Joana; Pires, Luis Miguel; Ribeiro, Ilda Patricia; Rebelo, Olinda; Pereira, Ricardo; Sales, Francisco; Santana, Isabel; Freire, Antonio; 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
3
TITLE: NEXT GENERATION SEQUENCING OF LIQUID BIOPSIES IN ORAL CANCER: A SMALL PILOT STUDY  Full Text
AUTHORS: Barroso, Leonor; Ribeiro, Ilda P.; Pires, Luis M.; Marques, Francisco; Melo, Joana B.; Carreira, Isabel M.;
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: URINE CFDNA FOR ORAL CANCER MONITORING: A CASE REPORT  Full Text
AUTHORS: Mano, Carolina; Barroso, Leonor; Pires, Luis M.; Marques, Francisco; Melo, Joana B.; Carreira, Isabel M.; Ribeiro, Ilda P.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
5
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
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TITLE: PRENATAL DIAGNOSIS OF WOLF-HIRSCHHORN SYNDROME WITH TWO DIFFERENT CELL LINES  Full Text
AUTHORS: Mascarenhas, Alexandra; Pires, Luis M.; Jardim, Ana; Melo, Joana B.; Carreira, Isabel M.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
7
TITLE: THE ROLE OF SIGNALLING PATHWAYS AND PRKCB IN GLIOBLASTOMA MULTIFORME PATIENTS' SURVIVAL  Full Text
AUTHORS: Esteves, Luisa; Ribeiro, Ilda Patricia; Caramelo, Francisco; Carreira, Isabel Marques; 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
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TITLE: GLIOBLASTOMA: GENOMIC AND EPIGENOMIC CHARACTERIZATION AND BIOMARKER IDENTIFICATION  Full Text
AUTHORS: Rosa, Gui; Esteves, Luisa; Roda, Domingos; Tavares, Ines; Mascarenhas, Alexandra; Pais, Claudia; Pires, Luis Miguel; Barros, Joao; Velasco, Ricardo; Alves, Paula; Caramelo, Francisco; Melo, Joana B.; Carreira, Isabel M.; Ribeiro, Ilda P.;
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: AN INTERSTITIAL TRIPLICATION OF 15Q11-Q13: A NEW CASE REPORT WITH HYPOTONIA AND FETAL GROWTH RESTRICTION  Full Text
AUTHORS: Paiva, Patricia; Ferreira, Susana Isabel; Jardim, Ana; Ramos, Lina; Melo, Joana Barbosa; Carreira, Isabel M.;
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: A DE NOVO PRENATAL DIAGNOSIS 21 RING CHROMOSOME DETECTED IN THREE STEPS - CLINICAL CASE REPORT  Full Text
AUTHORS: Lavoura, Nuno; Sá, Susana I ; Pires, Luis M.; Mascarenhas, Alexandra; Ramos, Fabiana; Rei, Ana I.; Melo, Joana B.; Carreira, Isabel M.;
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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