المؤلفون: Barkley, S.

مصطلحات موضوعية: Fanconi Anaemia, Diamond Blackfan Anaemia

الوصول الحر: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.841709Test

المؤلفون: Jonathan R. A. deWilde, Birgit vanDooijeweert, Annelies J. vanVuren, Elise J. Huisman, Frans J. Smiers, Arian vander Veer, Richard vanWijk, Wouter W. vanSolinge, Edward E. S. Nieuwenhuis, Eduard J. vanBeers, Marije Bartels

المصدر: eJHaem, Vol 3, Iss 4, Pp 1300-1304 (2022)

مصطلحات موضوعية: Diamond‐Blackfan anaemia, ferritin, iron overload, liver iron content, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2688-6146Test

الوصول الحر: https://doaj.org/article/a0c5ad6edef541d88a40c32d271f45faTest

المؤلفون: Roberto Valli, Marianna Penzo

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: ribosome biogenesis, rare disease, ribosomopathy, RPL10, shwachman diamond syndrome, diamond blackfan anaemia, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1194788/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/264a66ac70b64cb5b2fcf2b00e6c0894Test

المؤلفون: Akie Kobayashi, Ryusei Ohtaka, Tsutomu Toki, Junichi Hara, Hideki Muramatsu, Rika Kanezaki, Yuka Takahashi, Tomohiko Sato, Takuya Kamio, Ko Kudo, Shinya Sasaki, Taro Yoshida, Taiju Utsugisawa, Hitoshi Kanno, Kenichi Yoshida, Yasuhito Nannya, Yoshiyuki Takahashi, Seiji Kojima, Satoru Miyano, Seishi Ogawa, Kiminori Terui, Etsuro Ito

المصدر: eJHaem, Vol 3, Iss 1, Pp 163-167 (2022)

مصطلحات موضوعية: Diamond‐Blackfan anaemia (DBA), dyserythropoietic anaemia, GATA1, inherited bone marrow failure syndrome (IBMFS), intronic mutation, Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2688-6146Test

الوصول الحر: https://doaj.org/article/ab23682fb6af434fa7f986a01af0fcf7Test

المؤلفون: Valli R., Penzo M.

المساهمون: Valli, R., Penzo, M.

مصطلحات موضوعية: diamond blackfan anaemia, rare disease, ribosome biogenesi, ribosomopathy, RPL10, shwachman diamond syndrome, T-ALL leukemia, X-linked dyskeratosis congenita

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37124624; info:eu-repo/semantics/altIdentifier/wos/WOS:000978836300001; volume:14; firstpage:1; lastpage:3; numberofpages:3; journal:FRONTIERS IN GENETICS; https://hdl.handle.net/11383/2154132Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85153527791

الإتاحة: https://doi.org/10.3389/fgene.2023.1194788Test
https://hdl.handle.net/11383/2154132Test

المؤلفون: Thomas Ulasi, Chisom Nri-Ezedi, Ogochukwu Ofiaeli, Egbunike Chijioke

المصدر: International Journal of Scientific Research in Dental and Medical Sciences, Vol 3, Iss 2, Pp 101-104 (2021)

مصطلحات موضوعية: blood transfusion, diamond blackfan anaemia, erythroid precursors, haematopoietic cell transplant, prednisolone, pure red cell aplasia, Medicine, Dentistry, RK1-715

وصف الملف: electronic resource

العلاقة: http://www.ijsrdms.com/article_130775_275045c1bb6ba625c8b02d2fe3a894ea.pdfTest; https://doaj.org/toc/2676-5497Test; https://doaj.org/toc/2676-5373Test

الوصول الحر: https://doaj.org/article/87a9ab2373be468d9c2393193fca9c03Test

المؤلفون: Duncan, Brynn B, Lotter, Jennifer L, Superata, Jeanine, Barranta, Ma Evette, Machado, Tania, Darden, Ivana, Venugopal, Sanjay, Wu, Colin O, Abkowitz, Janis L, Dunbar, Cynthia E, Young, David J

المصدر: Br J Haematol ; ISSN:1365-2141 ; Volume:204 ; Issue:5

مصطلحات موضوعية: Diamond–Blackfan anaemia, chelation, eltrombopag

العلاقة: https://doi.org/10.1111/bjh.19357Test; https://pubmed.ncbi.nlm.nih.gov/38462764Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11212774Test/

الإتاحة: https://doi.org/10.1111/bjh.19357Test
https://pubmed.ncbi.nlm.nih.gov/38462764Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11212774Test/

المؤلفون: Guilherme Rossi Assis-Mendonça, Marlone Cunha-Silva, Mariana Franson Fernandes, Luiza Dias Torres, Monica Pinheiro de Almeida Verissimo, Marcelo Trevisan Neves Okano, Daniel Ferraz Mazo, Cristina Alba Lalli, Tiago Sevá-Pereira, Rafael Fantelli Stelini, Larissa Bastos Eloy da Costa

المصدر: BMC Gastroenterology, Vol 20, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Diamond–Blackfan anaemia, Haemochromatosis, Liver fibrosis, Acute-on-chronic liver failure, Heart failure, Autopsy, Diseases of the digestive system. Gastroenterology, RC799-869

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s12876-020-01468-9Test; https://doaj.org/toc/1471-230XTest

الوصول الحر: https://doaj.org/article/21c25bd7be9746819b2beebc8f2d4889Test

المؤلفون: Zuzana Macečková, Agáta Kubíčková, Juan De Sanctis, Marian Hajdúch

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1886

مصطلحات موضوعية: Diamond-Blackfan anaemia, glucocorticosteroid, erythropoiesis, GATA1, c-myc, mTOR, autophagy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms23031886Test

الإتاحة: https://doi.org/10.3390/ijms23031886Test

المؤلفون: van Dooijeweert, Birgit, Broeks, Melissa H, van Beers, Eduard J, Verhoeven-Duif, Nanda M, van Solinge, Wouter W, Nieuwenhuis, Edward E S, Jans, Judith J, van Wijk, Richard, Bartels, Marije

المساهمون: CDL Rode cel, Genetica Sectie Metabole Diagnostiek, Cancer, Poli Van Creveldkliniek Medisch, Child Health, Centraal Diagnostisch Laboratorium, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, CDL Arcadia, Circulatory Health, Haematologie patientenzorg

مصطلحات موضوعية: Diamond Blackfan Anaemia, disease fingerprint, dried blood spots, machine-learning algorithm, untargeted metabolomics, Hematology, Journal Article

وصف الملف: application/pdf

العلاقة: https://dspace.library.uu.nl/handle/1874/442800Test

الإتاحة: https://dspace.library.uu.nl/handle/1874/442800Test