about
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects[Mild bleeding diathesis in a 62-year-old woman with hereditary thrombocytopenia].Exome sequencing reveals a thrombopoietin ligand mutation in a Micronesian family with autosomal recessive aplastic anemia.Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia.Childhood diagnosis of genetic thrombocytopenia with mutation in the ankyrine repeat domain 26 gene.Inherited thrombocytopenia: novel insights into megakaryocyte maturation, proplatelet formation and platelet lifespan.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defectsMutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.Genetic sequence analysis of inherited bleeding diseases.Inherited thrombocytopenias in the era of personalized medicine.Innovation in the field of thrombocytopenias: achievements since the beginning of the century and promises for the future.Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.A comprehensive targeted next-generation sequencing panel for genetic diagnosis of patients with suspected inherited thrombocytopenia
P2860
Q29147411-0B917CB3-02BF-4F67-8657-F9DBC9D4BCD3Q33407771-508781AA-9B55-4ED2-858A-E7EA1F2CB142Q33410668-5DAF635B-9937-499E-B5FC-67ADBF20D5B0Q33414856-6B68F2D3-84BB-4925-8C13-700FF6EE3E2EQ33422253-812F2049-DD55-4698-9BCD-D0B76EFE3ED3Q33431116-36BB165E-DDCA-4006-B72C-851A918E778FQ33432109-3209BA1E-01AB-42C3-841F-370BCBE69A52Q33434291-736740B7-B2B5-48C9-BD08-2E5A7755EFA7Q33960799-4AE00359-2FD1-4ED0-8397-46E1A656AE40Q34663589-D760DDDB-12CC-440E-8FE8-9D3608F42F07Q42940560-9754B927-F8C1-4FC4-91B9-87D52C2670BBQ43109025-EF8DE966-36ED-4011-B6A9-C181C54FA693Q48272320-2D98D6D3-8877-435F-AE33-2EA444A93691Q57817723-25EF912E-7434-4DA8-B513-480DBBC022A1
P2860
description
2012 nî lūn-bûn
@nan
2012 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
name
Inherited thrombocytopenias: the evolving spectrum.
@ast
Inherited thrombocytopenias: the evolving spectrum.
@en
type
label
Inherited thrombocytopenias: the evolving spectrum.
@ast
Inherited thrombocytopenias: the evolving spectrum.
@en
prefLabel
Inherited thrombocytopenias: the evolving spectrum.
@ast
Inherited thrombocytopenias: the evolving spectrum.
@en
P356
P1433
P1476
Inherited thrombocytopenias: the evolving spectrum
@en
P2093
C L Balduini
P304
P356
10.5482/HA12050001
P577
2012-09-13T00:00:00Z