Mutations in the NHEJ component XRCC4 cause primordial dwarfism
about
Mechanisms of Origin, Phenotypic Effects and Diagnostic Implications of Complex Chromosome RearrangementsAdvances in Skeletal Dysplasia GeneticsMicrocephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical ReviewMutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis.Antigen Receptor Galaxy: A User-Friendly, Web-Based Tool for Analysis and Visualization of T and B Cell Receptor Repertoire Data.Genomic insights into growth and its disorders: an update.Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.Cloning, localization and focus formation at DNA damage sites of canine XRCC4.Strategies for B-cell receptor repertoire analysis in primary immunodeficiencies: from severe combined immunodeficiency to common variable immunodeficiency.Congenital defects in V(D)J recombination.Programmed DNA breaks in lymphoid cells: repair mechanisms and consequences in human diseaseMutations in XRCC4 cause primordial dwarfism without causing immunodeficiency.Regulation of non-homologous end joining via post-translational modifications of components of the ligation step.Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismWhen natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole-exome sequencing.A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathyCell-type specific role of the RNA-binding protein, NONO, in the DNA double-strand break response in the mouse testes.Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.Exploration of genetic basis underlying individual differences in radiosensitivity within human populations using genome editing technology.Dissection of DNA double-strand-break repair using novel single-molecule forceps
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P2860
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
description
2015 nî lūn-bûn
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
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2015年论文
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name
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@ast
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@en
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@nl
type
label
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@ast
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@en
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@nl
prefLabel
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@ast
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@en
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@nl
P2093
P2860
P50
P1476
Mutations in the NHEJ component XRCC4 cause primordial dwarfism
@en
P2093
Alireza Jawad
Andrea Leitch
Armand Bottani
Boris Kysela
Charu Deshpande
Edward S Miller
Eissa A Faqeih
Emmanuelle Ranza
Francesco Brancati
Gail E Graham
P2860
P304
P356
10.1016/J.AJHG.2015.01.013
P407
P577
2015-03-05T00:00:00Z