Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Congenital Dyserythropoietic Anemia[original query] |
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Clinical and genetic features of congenital dyserythropoietic anemia (CDA). European journal of haematology 2018 6 101 (3): 368-378. Moreno-Carralero María-Isabel, Horta-Herrera Saul, Morado-Arias Marta, Ricard-Andrés María-Pilar, Lemes-Castellano Angelina, Abio-Calvete Mariola, Cedena-Romero María-Teresa, González-Fernández Fernando-Ataulfo, Llorente-González Laura, Periago-Peralta Adela-María, de-la-Iglesia-Íñigo Silvia, Méndez Manuel, Morán-Jiménez María-Jo |
[Using target next-generation sequencing assay in diagnosing of 46 patients with suspected congenital anemias]. Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2018 5 39 (5): 414-419. Li Y, Peng G X, Gao Q Y, Li Y, Ye L, Li J P, Song L, Fan H H, Yang Y, Xiong Y Z, Wu Z J, Yang W R, Zhou K, Zhao X, Jing L P, Zhang F K, Zhang |
Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias. American journal of hematology 2018 2 93 (5): 672-682. Russo Roberta, Andolfo Immacolata, Manna Francesco, Gambale Antonella, Marra Roberta, Rosato Barbara Eleni, Caforio Paola, Pinto Valeria, Pignataro Piero, Radhakrishnan Kottayam, Unal Sule, Tomaiuolo Giovanna, Forni Gian Luca, Iolascon Achil |
Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. International journal of hematology 2021 4 114 (3): 390-394. Chen Shanshan, Guo Ziwen, Ye Yongbin, Yang Shanhong, Huang Guini |
Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report. Experimental and therapeutic medicine 2021 3 21 (5): 456. Han Yue, Zhuang Yan, Tang Weiliang, Chen Lu, Chen Yejing, Gong Qiming, Zhang Xinx |
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency. Scientific reports 2023 3 13 (1): 4395. Zaninoni Anna, Marra Roberta, Fermo Elisa, Consonni Dario, Andolfo Immacolata, Marcello Anna Paola, Rosato Barbara Eleni, Vercellati Cristina, Barcellini Wilma, Iolascon Achille, Bianchi Paola, Russo Rober |
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