A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
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Diagnostic approaches for inherited hemolytic anemia in the genetic eraThe Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness AnalysisWhole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia.Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations.Hereditary stomatocytosis: An underdiagnosed condition.Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations
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P2860
A novel 33-Gene targeted resequencing panel provides accurate, clinical-grade diagnosis and improves patient management for rare inherited anaemias
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 19 July 2016
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A novel 33-Gene targeted reseq ...... nt for rare inherited anaemias
@en
A novel 33-Gene targeted reseq ...... t for rare inherited anaemias.
@nl
type
label
A novel 33-Gene targeted reseq ...... nt for rare inherited anaemias
@en
A novel 33-Gene targeted reseq ...... t for rare inherited anaemias.
@nl
prefLabel
A novel 33-Gene targeted reseq ...... nt for rare inherited anaemias
@en
A novel 33-Gene targeted reseq ...... t for rare inherited anaemias.
@nl
P2093
P2860
P50
P356
P1476
A novel 33-Gene targeted reseq ...... nt for rare inherited anaemias
@en
P2093
Amrana Qureshi
Anna Schuh
Avery Mixon
Brenda Gibson
Christian Babbs
David J P Ferguson
David Roberts
Edward A Wilson
Georgina Hall
Helene Dreau
P2860
P304
P356
10.1111/BJH.14221
P407
P577
2016-07-19T00:00:00Z