Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
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Effects of Auditory Rhythm and Music on Gait Disturbances in Parkinson's Disease.Dysplasia of Granulocytes in a Patient with HPV Disease, Recurrent Infections, and B Lymphopenia: A Novel Variant of WHIM Syndrome?Precision Medicine for Continuing Phenotype Expansion of Human Genetic Diseases.Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) geneComprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New ZealandFOXN1 deficient nude severe combined immunodeficiency.Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.The role of genomics in common variable immunodeficiency disorders.Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.A novel pathogenic frameshift variant of CD3E gene in two T-B+ NK+ SCID patients from Turkey.Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings.Bacille Calmette–Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010–2017.Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
P2860
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P2860
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
description
2014 nî lūn-bûn
@nan
2014 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@ast
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@en
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@nl
type
label
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@ast
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@en
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@nl
prefLabel
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@ast
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@en
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@nl
P2093
P2860
P1433
P1476
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach
@en
P2093
A Charlotta Asplund
Elin Falk-Sörqvist
Lotte N Moens
Mats Nilsson
P2860
P304
P356
10.1371/JOURNAL.PONE.0114901
P407
P577
2014-12-11T00:00:00Z