Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
about
Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation.Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.Myelodysplastic syndromes and acute leukemia with genetic predispositions: a new challenge for hematologists.Role of RUNX1 in hematological malignancies.Gene of the issue: RUNX1 mutations and inherited bleeding.Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.Mutations of RUNX1 in families with inherited thrombocytopenia.Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.Challenges on the diagnostic approach of inherited platelet function disorders: Is a paradigm change necessary?
P2860
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P2860
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders.
description
2016 nî lūn-bûn
@nan
2016 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Haematological spectrum and ge ...... inherited platelet disorders.
@ast
Haematological spectrum and ge ...... inherited platelet disorders.
@en
type
label
Haematological spectrum and ge ...... inherited platelet disorders.
@ast
Haematological spectrum and ge ...... inherited platelet disorders.
@en
prefLabel
Haematological spectrum and ge ...... inherited platelet disorders.
@ast
Haematological spectrum and ge ...... inherited platelet disorders.
@en
P2093
P2860
P1476
Haematological spectrum and ge ...... inherited platelet disorders.
@en
P2093
Alexandre Bouquet
Aline Renneville
Anne Bauters
Annick Ankri
Christophe Philippe
Guy Leverger
Hagay Sobol
Marie-Christine Alessi
Marie-Joelle Mozziconacci
Paola Ballerini
P2860
P2888
P356
10.1186/S13023-016-0432-0
P577
2016-04-26T00:00:00Z
P6179
1024396414