Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
about
Update of the human and mouse Fanconi anemia genesGenomic characterization of the inherited bone marrow failure syndromes.Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromes.Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges.Altered PLP1 splicing causes hypomyelination of early myelinating structures.Identification of point mutations and large intragenic deletions in Fanconi anemia using next-generation sequencing technologyThe concept and practice of Fanconi Anemia: from the clinical bedside to the laboratory benchFANCI is a negative regulator of Akt activation.Current insights into inherited bone marrow failure syndromesGenetic counseling for Fanconi anemia: crosslinking disciplines.A strategy for molecular diagnostics of Fanconi anemia in Brazilian patients.Detection of new pathogenic mutations in patients with congenital haemolytic anaemia using next-generation sequencing.Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.Finnish Fanconi anemia mutations and hereditary predisposition to breast and prostate cancer
P2860
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P2860
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@ast
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@en
type
label
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@ast
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@en
prefLabel
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@ast
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@en
P2093
P2860
P50
P356
P1433
P1476
Diagnosis of fanconi anemia: mutation analysis by next-generation sequencing
@en
P2093
Hans Joenje
Johan J P Gille
Johan P de Winter
Josephine C Dorsman
Lianne Kerkhoven
Najim Ameziane
Yavuz Ariyurek
P2860
P304
P356
10.1155/2012/132856
P577
2012-06-03T00:00:00Z