Mariana S. E. Soeiro E. Sa
AuthID: R-00J-NJN
1
TITLE: A NOVEL LIKELY PATHOGENIC VARIANT IN KIF1A-A NEW CASE OF NESCAV SYNDROME Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Sousa, Ana Berta;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: 
WOS
WOS2
TITLE: CONGENITAL HEART DEFECTS DETECTED IN PRENATAL CARE AT HOSPITAL SANTA MARIA-6-YEAR RETROSPECTIVE ANALYSIS Full Text
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
AUTHORS: Silva, Raquel G.; Rebelo, Monica; Moldovan, Oana; Araujo, Ana R.; Dupont, Juliette; Dias, Patricia; Rodrigues, Marcia; Sa, Mariana S. E.; Travessa, Andre; Soares, Marta P.; Custodio, Sonia; Santos, Rosario S.; Rodrigues, Raquel; Rolo, Eva; Sousa, Ana C.; Sousa, Ana B.;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
WOS3
TITLE: GENOTYPE, PHENOTYPE AND CLINICAL FOLLOW-UP OF A MULTICENTRIC COHORT OF PATIENTS WITH PTEN HAMARTOMA TUMOR SYNDROME Full Text
AUTHORS: Soares, Celia Azevedo; Soares, Gabriela; Soares, Ana Rita; Soares, Marta; Rodrigues, Marcia; Dupont, Juliette; Dias, Patricia; Soeiro e Sa, Mariana; Sousa, Ana Berta; Nunes, Sofia; Venancio, Margarida; Antunes, Diana; Fortuna, Ana Maria; Tkachenko, Natalia;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Soares, Celia Azevedo; Soares, Gabriela; Soares, Ana Rita; Soares, Marta; Rodrigues, Marcia; Dupont, Juliette; Dias, Patricia; Soeiro e Sa, Mariana; Sousa, Ana Berta; Nunes, Sofia; Venancio, Margarida; Antunes, Diana; Fortuna, Ana Maria; Tkachenko, Natalia;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS4
TITLE: THREE PATIENTS WITH PHIP-RELATED SYNDROME - FURTHER PHENOTYPIC DELINEATION Full Text
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Dias, Patricia; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Macedo, Catarina; Soeiro e Sa, Mariana; Dias, Patricia; Rodrigues, Marcia; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS5
TITLE: CNOT2 IS PHENOCRITICAL FOR 12Q15 MICRODELETION SYNDROME Full Text
AUTHORS: Rodrigues, Raquel; Soeiro Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Rodrigues, Raquel; Soeiro Sa, Mariana; Sousa, Ana; Sousa, Ana Berta;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS6
TITLE: VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
AUTHORS: Daniela Pimenta Silva; Mariana S E Soeiro E Sa; Fernando Silveira; Susana Pinto; Marta Gromicho; Ana Berta Sousa; Miguel Leao; Mamede De Carvalho;
PUBLISHED: 2020, SOURCE: AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION, VOLUME: 21, ISSUE: 3-4
INDEXED IN: 
Scopus WOS
Scopus WOS