Exome and genome sequencing for inborn errors of immunity.
about
Cystic fibrosis carriership and tuberculosis: hints toward an evolutionary selective advantage based on data from the Brazilian territory.Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.Gene therapy for primary immune deficiencies: a Canadian perspective.Discovery of Variants Underlying Host Susceptibility to Virus Infection Using Whole-Exome Sequencing.Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies.Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives.Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing.Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.CDG: An Online Server for Detecting Biologically Closest Disease-Causing Genes and its Application to Primary Immunodeficiency.Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and TreatmentInherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and AdultsPrimary immunodeficiencyEleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report
P2860
Q33677221-03E07CF9-CE24-4852-805F-EF2AFD96E77DQ33729479-AFC174BE-C807-446A-BEBA-B773DE84BC8CQ37668317-C998FB58-78DF-4F64-B3F2-476686213C5BQ40082850-31BA6AE7-3D48-443F-9F12-B56492104980Q40101187-8DA2C245-D6D6-46EE-9FE1-E95B90EB8F4BQ47097066-E1F0C74B-2706-446E-A7E2-69CD34B18BCBQ47317507-6DDC1864-91A6-4A14-9484-B811E13EC39DQ48150747-253EE8C3-7004-4AA6-9F2A-EE61B82C8AC8Q52675348-7B7778B4-7AAC-4240-ABFA-BA1A6DD941ECQ55620630-72A5C594-4C05-485E-8B5F-20B9A5F54241Q56701114-179EEA5F-A54A-42A6-97EA-E1FAED2FFE14Q57059323-2813EBDD-099F-41A4-A3DD-D607C0E65120Q57111836-D9EDAEF5-D156-4BB2-8E6D-56EF9D839F80Q58696278-93270117-0B44-4B19-946E-48B5270AF24B
P2860
Exome and genome sequencing for inborn errors of immunity.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
Exome and genome sequencing for inborn errors of immunity.
@en
type
label
Exome and genome sequencing for inborn errors of immunity.
@en
prefLabel
Exome and genome sequencing for inborn errors of immunity.
@en
P2093
P2860
P50
P1476
Exome and genome sequencing for inborn errors of immunity.
@en
P2093
Alexandre Bolze
Aziz Belkadi
Barbara Bosch
Isabelle Meyts
Leen Moens
Vincent Pedergnana
Xavier Bossuyt
Yuval Itan
P2860
P304
P356
10.1016/J.JACI.2016.08.003
P407
P577
2016-10-01T00:00:00Z