Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
about
Ribosomopathies: Global process, tissue specific defectsRibosomopathies: how a common root can cause a tree of pathologiesRegulatory Roles of Rpl22 in Hematopoiesis: An Old Dog with New TricksNew insights into craniofacial malformationsThe genomics of inherited bone marrow failure: from mechanism to the clinic.Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium InternatiRibosomal proteins: functions beyond the ribosomeHairless Streaks in Cattle Implicate TSR2 in Early Hair Follicle Formation.Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.Development of Soft Tissue Sarcomas in Ribosomal Proteins L5 and S24 Heterozygous Mice.Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.A review of craniofacial disorders caused by spliceosomal defects.Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.Molecular convergence in ex vivo models of Diamond-Blackfan anemia.Hold on to your friends: Dedicated chaperones of ribosomal proteins: Dedicated chaperones mediate the safe transfer of ribosomal proteins to their site of pre-ribosome incorporation.Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia.Lymphoblastoid cell lines from Diamond Blackfan anaemia patients exhibit a full ribosomal stress phenotype that is rescued by gene therapy.Pediatric Diamond-Blackfan anemia in the Netherlands: An overview of clinical characteristics and underlying molecular defects.Identification of genes and pathways in the synovia of women with osteoarthritis by bioinformatics analysis.How Ribosomes Translate Cancer.Otologic manifestations of Fanconi anemia and other inherited bone marrow failure syndromes.[Connecting isolated congenital asplenia to the ribosome].Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis.Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.Identification of differentially expressed genes and pathways in mice exposed to mixed field neutron/photon radiation.An update on the pathogenesis and diagnosis of Diamond-Blackfan anemiaMolecular basis for disassembly of an importin:ribosomal protein complex by the escortin Tsr2
P2860
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P2860
Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28
description
2014 nî lūn-bûn
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2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2014年の論文
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2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@ast
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en-gb
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@nl
type
label
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@ast
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en-gb
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@nl
prefLabel
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@ast
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en-gb
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@nl
P2093
P2860
P356
P1476
Diamond-Blackfan anemia with m ...... novel DBA genes TSR2 and RPS28
@en
P2093
Ann Haskins Olney
Claudio Sandoval
Cynthia Curry
Deborah L Stabley
Jamie Fisher
Karen W Gripp
Katia Sol-Church
Lisa Pilchman
Rebecca Sahraoui
P2860
P304
P356
10.1002/AJMG.A.36633
P407
P577
2014-09-01T00:00:00Z