The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
about
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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemiaAbnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemiaRibosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patientsInherited bone marrow failure syndromes in adolescents and young adults.Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.Diamond-Blackfan anemia: diagnosis, treatment, and molecular pathogenesis.How I treat Diamond-Blackfan anemia.RPS19 and TYMS SNPs and Prevalent High Risk Human Papilloma Virus Infection in Nigerian WomenUntangling the phenotypic heterogeneity of Diamond Blackfan anemia.Ribosomal protein gene deletions in Diamond-Blackfan anemia.In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature.Incidence of neoplasia in Diamond Blackfan anemia: a report from the Diamond Blackfan Anemia Registry.Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemiaThe spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutationThe rule of four: a systematic approach to diagnosis of common pediatric hematologic and oncologic disorders.Anemia of Central Origin.Hereditary and familial syndromes of bone and blood. Genetic pathways, diagnostic pitfalls.Diamond-Blackfan anemia, ribosome and erythropoiesis.Current insights into the diagnosis and treatment of inherited bone marrow failure syndromes in China.Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.Diamond Blackfan anemia: a model for the translational approach to understanding human disease.Current insights into inherited bone marrow failure syndromesCRISPR-Cas9 technology and its application in haematological disorders.Expression trend of selected ribosomal protein genes in nasopharyngeal carcinoma.Obsessive compulsive disorder comorbidity in DBA.Oral and dental manifestations of diamond-blackfan anemia: case reports.Transplantation-associated thrombotic microangiopathy isolated to a congenital anomaly of the lung.Haematopoietic stem cell transplantation for Diamond Blackfan anaemia: a report from the Italian Association of Paediatric Haematology and Oncology Registry.Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemia
P2860
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P2860
The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@ast
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@en
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@nl
type
label
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@ast
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@en
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@nl
prefLabel
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@ast
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@en
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@nl
P2093
P1476
The Diamond Blackfan Anemia Re ...... ogy of Diamond-Blackfan anemia
@en
P2093
P304
P356
10.1097/00043426-200108000-00015
P407
P577
2001-01-01T00:00:00Z