Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

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The genomics of inherited bone marrow failure: from mechanism to the clinic.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.

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Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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2016年论文

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2016年论文

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name

Diamond Blackfan Anemia: A Non ...... Assisted by Genomic Analysis.

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Diamond Blackfan Anemia: A Non ...... Assisted by Genomic Analysis.

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Diamond Blackfan Anemia: A Non ...... Assisted by Genomic Analysis.

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Diamond Blackfan Anemia: A Non ...... Assisted by Genomic Analysis.

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Akiko Shimamura

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Hannah Tamary

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Joanne Yacobovich

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Orly Dgany

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Orna Steinberg-Shemer

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Paola Quarello

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Sharon Noy-Lotan

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Siobán Keel

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Tanya Krasnov

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Tom Walsh

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P2860

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients

Mutations in ribosomal protein S19 gene and diamond blackfan anemia: wide variations in phenotypic expression

Triphalangeal thumb

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.

Elevated red cell adenosine deaminase activity: a marker of disordered erythropoiesis in Diamond-Blackfan anaemia and other haematologic diseases.

Target enrichment and high-throughput sequencing of 80 ribosomal protein genes to identify mutations associated with Diamond-Blackfan anaemia.

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis

The spectrum of non-classical Diamond-Blackfan anemia: a case of late beginning transfusion dependency associated to a new RPL5 mutation

Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia.

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scholarly article

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10.1097/MPH.0000000000000587

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Mary-Claire King

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2016-06-01T00:00:00Z

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Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

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P2860

P2860

Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.

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