OC 4 - NEXT GENERATION SEQUENCING APPROACH TO BONE MARROW FAILURE SYNDROMES – PORTUGUESE EXPERIENCE

Autor: Coucelo, Margarida, Azevedo, Joana, Bogalho, Isabel, Simões, Ana Teresa, Oliveira, Ana Catarina, Batalha, Sara, Constanço, Conceição, Melo, Teresa, Almeida, José Carlos, Desterro, Joana, Ribeiro, Patricia, Costa, Emilia, Ferrão, Anabela, Kjollerstrom, Paula, Geraldes, Catarina

Publikováno v: In EJC Paediatric Oncology December 2023 2 Supplement 1

Abordagem Perioperatória de uma Adolescente com Hemofilia B Submetida a Instrumentação Posterior da Coluna Dorsolombar

Autor: Martinho, Liliana, Perry Da Câmara, Luisa, Batalha, Sara, Rodrigues, Joana, Carioca, Filipa, Marques, Joana

Publikováno v: Journal of the Portuguese Society of Anesthesiology; Vol. 31 No. 1 (2022): Revista da Sociedade Portuguesa de Anestesiologia
Revista da Sociedade Portuguesa de Anestesiologia; Vol. 31 N.º 1 (2022): Revista da Sociedade Portuguesa de Anestesiologia

Hemophilia B is a coagulation disorder characterized by a deficiency of clotting factor IX. Women are often heterozygous carriers of the disease, however if their clotting factor levels are less than 60%, they may have an increased bleeding tendency.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aee53f301270921a5ffc6f1bbac0f70
https://revistas.rcaap.pt/anestesiologia/article/view/25544

Social and emotional learning in preschool education : a qualitative study with preschool teachers

Autor: Marco Paulo Maia Ferreira, Reis-Jorge, Jose, Batalha, Sara

Publikováno v: CIÊNCIAVITAE
International Journal of Emotional Education, Vol 13, Iss 1, Pp 51-66 (2021)
Scopus-Elsevier
Publons

Social and emotional learning (SEL) is an important component of early school readiness and healthy child development. Research has shown that children`s development of social and emotional skills at preschool age is critical for long-term school and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::47af11ba3ffccb511d8654c51ab2afd9
https://www.um.edu.mt/library/oar/handle/123456789/76514

Case Report: Wide Spectrum of Manifestations of Ligase IV Deficiency: Report of 3 Cases.

Autor: Castro, Ana Costa e, Maia, Raquel, Batalha, Sara, Freixo, João Parente, Martins, Catarina, Neves, Conceição, Cordeiro, Ana Isabel, Neves, João Farela

Publikováno v: Frontiers in Immunology; 5/3/2022, Vol. 13, p1-6, 6p

Novel mutation in addition to functional TMPRSS6 gene polymorphisms originate an IRIDA-like phenotype in an African child

Autor: Faleiro, Bárbara D., Maia, Raquel, Batalha, Sara, Mendonça, Joana, Machado, Miguel P., Vieira, Luís, Lavinha, João, Faustino, Paula

Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsive to oral iron intake and partially responsive to parenteral iron treatment. The disease originates from mutations in TMPRSS6 gene, encoding Matripta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2016::d6c0905eb8d71309f38519b988db9266
https://hdl.handle.net/10400.18/6728