New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
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Missing Cells: Pathophysiology, Diagnosis, and Management of (Pan)Cytopenia in ChildhoodThe exon junction complex in neural development and neurodevelopmental disease.Genomic characterization of the inherited bone marrow failure syndromes.Lessons in platelet production from inherited thrombocytopenias.Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association.Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.Role of Genetic Factors in the Pathogenesis of Radial Deficiencies in Humans.Inherited thrombocytopenias-recent advances in clinical and molecular aspects.Molecular diagnosis of thrombocytopenia-absent radius syndrome using next-generation sequencing.Purifying selection in deeply conserved human enhancers is more consistent than in coding sequences.A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disordersA review of craniofacial disorders caused by spliceosomal defects.Novel Association of Odontogenic Myxoma with Constitutional Chromosomal 1q21 Microduplication: Case Report and Review of the Literature.H255Y and K508R missense mutations in tumour suppressor folliculin (FLCN) promote kidney cell proliferation.Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease
P2860
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P2860
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
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2013 nî lūn-bûn
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2013 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@ast
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
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type
label
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@ast
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@en
prefLabel
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@ast
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@en
P1476
New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.
@en
P2093
Cornelis A Albers
Ruth Newbury-Ecob
P304
P356
10.1016/J.GDE.2013.02.015
P577
2013-04-17T00:00:00Z