المؤلفون: Mara Musri, Melina, Venturi, Veronica, Ferrer-Cortès, Xènia, Romero-Cortadellas, Lídia, Hernández, Gonzalo, Leoz, Pilar, Ricard Andrés, María Pilar, Morado, Marta, Fernández Valle, María del Carmen, Beneitez Pastor, David, Ortuño Cabrero, Ana, Moreno Gamiz, Maite, Senent Peris, Leonor, Perez-Valencia, Amanda Isabel, Pérez-Montero, Santiago, Tornador, Cristian, Sánchez, Mayka

مصطلحات موضوعية: Anèmia diseritropoètica congènita, CDA tipus II, SEC23B, Anèmies hereditàries, Eritropoesi ineficaç, Malaltia rara de la sang, Mutacions, Variants, Anemia diseritropoyética congénita, CDA tipo II, Anemias hereditarias, Eritropoyesis ineficaz, Enfermedad sanguínea rara, Mutaciones, Variantes, Congenital dyserythropoietic anemia, CDA type II, Hereditary anemias, Ineffective erythropoiesis, Rare blood disease, Mutations

الوقت: 61

وصف الملف: application/pdf

العلاقة: International Journal of Molecular Sciences; 24;12; Mara Musri, Melina; Venturi, Veronica; Ferrer-Cortès, Xènia [et al.]. New cases and mutations in SEC23B gene causing congenital dyserythropoietic anemia type II. International Journal of Molecular Sciences, 2023, 24(12), 9935. Disponible en: . Fecha de acceso: 21 sep. 2023. DOI:10.3390/ijms24129935; http://hdl.handle.net/20.500.12328/3820Test; https://dx.doi.org/10.3390/ijms24129935Test

الإتاحة: https://doi.org/20.500.12328/3820Test
https://doi.org/10.3390/ijms24129935Test
https://hdl.handle.net/20.500.12328/3820Test

المؤلفون: Faleiro, Bárbara

المساهمون: Faustino, Paula, Rebelo, Maria Teresa, Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Anemia, Anemias Hereditárias, Hemoglobinopatias, IRIDA, Next-Generation Sequencing, Doenças Raras, Doenças Genéticas, TMPRSS6, HFE, Portadores de β-talassémia, Anemia Ferropénica, Anemia Microcítica, Índices Hematológicos, Hereditary Anemias, Hemoglobinopathies, Genetic Variation, β-thalassemia Trait, Iron Deficiency Anemia, Microcytic Anemia, Hematological Indices

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7523Test

المؤلفون: Brito, Miguel, Santos, Brígida, Delgadinho, Mariana, Panzo, Miguel, Catumbela, Lucas, Salvador, Graciete, Valentim, Isabel, Zagi, Félix, Silva, Fátima, Germano, Isabel, Miranda, Armandina, Arez, Ana Paula, Faustino, Paula

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Sicke Cell Disease, Alpha thalassemia, Anemias Hereditárias, Alfa-talassémia, Drepanocitose, Angola, Hemoglobinopatias, Doenças Genéticas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10400.18/7453Test

المؤلفون: Faleiro, Bárbara Düemke Coelho

المساهمون: Faustino, Paula, Rebelo, Maria Teresa Ferreira Ramos Nabais de Oliveira,1964-, Repositório da Universidade de Lisboa

مصطلحات موضوعية: Anemias hereditárias, Hemoglobinopatias, IRIDA, Next-Generation Sequencing, TMPRSS6, HFE, Portadores de β-talassémia, Anemia ferropénica, Anemia microcítica, Índices hematológicos, Teses de mestrado - 2020, Domínio/Área Científica::Ciências Naturais::Ciências Biológicas

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/10451/45120Test

المؤلفون: Brito, Miguel, Santos, Brígida, Delgadinho, Mariana, Panzo, Miguel, Catumbela, Lucas, Salvador, Graciete, Valentim, Isabel, Zagi, Félix, Silva, Fátima, Germano, Isabel, Miranda, Armandina, Arez, Ana Paula, Faustino, Paula

مصطلحات موضوعية: Sicke Cell Disease, Alpha thalassemia, Anemias Hereditárias, Alfa-talassémia, Drepanocitose, Angola, Hemoglobinopatias, Doenças Genéticas

العلاقة: http://hdl.handle.net/10400.18/7453Test

الإتاحة: http://hdl.handle.net/10400.18/7453Test

المؤلفون: Santos, Brígida, Delgadinho, Mariana, Ferreira, Joana, Germano, Isabel, Miranda, Armandina, Faustino, Paula, Brito, Miguel

مصطلحات موضوعية: 3.7 kb alpha-thalassemia Deletion, alfa-talassémia, Fetal Hemoglobin, Sicke Cell Disease, Angola, Hemoglobinopatias, Drepanocitose, Anemias Hereditárias, Doenças Genéticas

العلاقة: 330842553; https://link.springer.com/article/10.1007%2Fs11033-020-05628-8Test; Mol Biol Rep. 2020;47(7):5397-5402. doi:10.1007/s11033-020-05628-8. Epub 2020 Jul 6.; http://hdl.handle.net/10400.18/7356Test; https://doi.org/10.1007/s11033-020-05628-8Test

الإتاحة: https://doi.org/10.1007/s11033-020-05628-8Test
http://hdl.handle.net/10400.18/7356Test

المؤلفون: Faleiro, Bárbara

المساهمون: Faustino, Paula, Rebelo, Maria Teresa

مصطلحات موضوعية: Anemia, Anemias Hereditárias, Hemoglobinopatias, IRIDA, Next-Generation Sequencing, Doenças Raras, Doenças Genéticas, TMPRSS6, HFE, Portadores de β-talassémia, Anemia Ferropénica, Anemia Microcítica, Índices Hematológicos, Hereditary Anemias, Hemoglobinopathies, Genetic Variation, β-thalassemia Trait, Iron Deficiency Anemia, Microcytic Anemia, Hematological Indices

العلاقة: POCI-01-0145-FEDER022184; https://repositorio.ul.pt/handle/10451/45120Test; http://hdl.handle.net/10400.18/7523Test

الإتاحة: http://hdl.handle.net/10400.18/7523Test

المؤلفون: Brígida Santos, Isabel Germano, Mariana Delgadinho, Paula Faustino, Ana Paula Arez, Armandina Miranda, Joana Ferreira, Miguel Brito

المساهمون: Repositório da Universidade de Lisboa

المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP

مصطلحات موضوعية: Erythrocyte Indices, Male, 0301 basic medicine, medicine.medical_treatment, Comorbidity, Alpha-thalassemia, Gastroenterology, Cohort Studies, 0302 clinical medicine, hemic and lymphatic diseases, alfa-talassémia, Child, Children, Mean corpuscular volume, Fetal Hemoglobin, education.field_of_study, Hematology, medicine.diagnostic_test, Homozygote, General Medicine, Fetal hemoglobin, 3.7 kb alpha-thalassemia deletion, Child, Preschool, 030220 oncology & carcinogenesis, 3.7 kb alpha-thalassemia Deletion, Female, Heterozygote, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Genotype, Sicke Cell Disease, Splenectomy, Population, Drepanocitose, Mean corpuscular hemoglobin, Anemia, Sickle Cell, Hemolysis, 03 medical and health sciences, alpha-Thalassemia, Internal medicine, Anemias Hereditárias, Genetics, medicine, Humans, Hemoglobinopatias, education, Molecular Biology, business.industry, Sickle cell disease, Aga Khan Development Network Project No. 330842553, medicine.disease, Doenças Genéticas, 030104 developmental biology, Angola, Hemoglobin, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42e4a8fbdda03fcd7e44579a56436a0aTest
https://hdl.handle.net/10451/44081Test

المؤلفون: Reis, Paulo Roberto de Melo

مرشدي الرسالة: Naoum, Paulo Cesar

المصدر: Biblioteca Digital de Teses e Dissertações da PUC_GOAISPontifícia Universidade Católica de GoiásPUC_GO.

مصطلحات موضوعية: Anemias Hereditárias, Hemoglobinopatias, Talassemia Alfa, Epidemiologia, CNPQ::CIENCIAS DA SAUDE

وصف الملف: application/pdf

الإتاحة: http://localhost:8080/tede/handle/tede/2987Test

المؤلفون: Santos, Brígida, Delgadinho, Mariana, Ferreira, Joana, Germano, Isabel, Miranda, Armandina, Faustino, Paula, Brito, Miguel

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: 3.7 kb alpha-thalassemia Deletion, alfa-talassémia, Fetal Hemoglobin, Sicke Cell Disease, Angola, Hemoglobinopatias, Drepanocitose, Anemias Hereditárias, Doenças Genéticas

وصف الملف: application/pdf

العلاقة: Mol Biol Rep. 2020;47(7):5397-5402. doi: 10.1007/s11033-020-05628-8. Epub 2020 Jul 6.; 0301-4851; 1573-4978

الإتاحة: http://hdl.handle.net/10400.18/7356Test