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Human Mutation|March 21, 2012
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaHanna T Gazda, Milena Preti, Mee Rie Sheen, et al.
American Journal of Human Genetics|December 9, 2008
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsHanna T Gazda, Mee Rie Sheen, Adrianna Vlachos, et al.
Haematologica|April 4, 2020
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35AMatthew D Gianferante, Marcin W Wlodarski, Evangelia Atsidaftos, et al.
Blood|March 27, 2001
Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p diseaseH Gazda, J M Lipton, T N Willig, et al.
Blood|December 19, 2015
Pomalidomide reverses γ-globin silencing through the transcriptional reprogramming of adult hematopoietic progenitorsBrian M Dulmovits, Abena O Appiah-Kubi, Julien Papoin, et al.
Blood|June 7, 2008
Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemiaJason E Farrar, Michelle Nater, Emi Caywood, et al.
American Journal of Human Genetics|December 23, 2006
Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemiaHanna T Gazda, Agnieszka Grabowska, Lilia B Merida-Long, et al.
Journal of Pediatric Hematology/Oncology|May 19, 2026
A Survey of Provider Practices for Diagnosis and Treatment of Pediatric Moderate Aplastic Anemia From the North American Pediatric Aplastic Anemia ConsortiumLinah Omer, Nicholas J Gloude, Catherine McGuinn, et al.
Archives of Neurology|December 15, 2010
Validation of consensus panel diagnosis in dementiaMatthew J Gabel, Norman L Foster, Judith L Heidebrink, et al.
Current Opinion in Structural Biology|February 15, 2014
A new system for naming ribosomal proteinsNenad Ban, Roland Beckmann, Jamie H D Cate, et al.
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