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TITLE: TWO CASE REPORT OF A NEW RECOGNIZABLE SYNDROME - DEGCAGS (DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES)  Full Text
AUTHORS: Santos, Mafalda; Azevedo, Joana; Carvalho, Ana L.; Sousa, Sergio B.;
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: Ataxia-telangiectasia syndrome  Full Text
AUTHORS: Fortuna, Joana; Rodrigues, Ana Luisa; Pires, Paula;
PUBLISHED: 2022, SOURCE: PEDIATRICS AND NEONATOLOGY, VOLUME: 63, ISSUE: 5
INDEXED IN: Scopus WOS
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TITLE: KBG SYNDROME IN THE PORTUGUESE POPULATION: CLINICAL AND MOLECULAR CHARACTERIZATION OF 41 PATIENTS  Full Text
AUTHORS: Neves, Mariana Tomasio; Dias, Patricia; Louro, Pedro ; Rosas, Catarina; Fernandes, Sofia; Abreu, Maria; Ferreira, Susana; Melo, Mafalda; Moldovan, Oana; Dupont, Juliette; Travessa, Andre; Alves, Joao Rodrigues; Medeira, Ana; Cordeiro, Isabel; Santos, Heloisa; Almeida, Pedro Maia; Sa, Joaquim; Ramos, Fabiana; Carvalho, Ana Luisa; Sousa, Sergio; Ramos, Lina; Soares, Ana Rita; Soares, Celia; Soares, Gabriela; Tkachenko, Nataliya; Amorim, Marta; Antunes, Diana; Freixo, Joao; Fortuna, Ana Maria; Reis, Claudia Falcao; Saraiva, Jorge; Sousa, Ana Berta; ...More
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
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TITLE: 3D Modeling of Esophageal Development using Human PSC-Derived Basal Progenitors Reveals a Critical Role for Notch Signaling
AUTHORS: Yongchun C Zhang; Ying Yang; Ming Jiang; Sarah Xuelian Huang; Wanwei W Zhang; Denise Al Alam; Soula Danopoulos; Munemasa Mori; Ya Wen Chen; Revathi Balasubramanian; Susana Chuva C D de Sousa Lopes; Carlos Serra; Monika Bialecka; Eugene Kim; Sijie J Lin; Ana Luisa R T Rodrigues Toste de Carvalho; Paul N Riccio; Wellington V Cardoso; Xin Zhang; Hans Willem Snoeck; Jianwen W Que; ...More
PUBLISHED: 2018, SOURCE: CELL STEM CELL, VOLUME: 23, ISSUE: 4
INDEXED IN: Scopus WOS
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TITLE: A three-dimensional model of human lung development and disease from pluripotent stem cells
AUTHORS: Ya Wen Chen; Sarah Xuelian Huang; Ana Luisa R T Rodrigues Toste de Carvalho; Siu Hong Ho; Mohammad Naimul Islam; Stefano Volpi; Luigi D Notarangelo; Michael Ciancanelli; Jean Laurent Casanova; Jahar Bhattacharya; Alice F Liang; Laura M Palermo; Matteo Porotto; Anne Moscona; Hans Willem Snoeck;
PUBLISHED: 2017, SOURCE: NATURE CELL BIOLOGY, VOLUME: 19, ISSUE: 5
INDEXED IN: Scopus WOS