Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
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Epigenetic Regulation of the Biosynthesis & Enzymatic Modification of Heparan Sulfate Proteoglycans: Implications for Tumorigenesis and Cancer Biomarkers.Expanding the spectrum of skeletal dysplasia with immunodeficiency: a commentary on identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia.The pathogenic roles of heparan sulfate deficiency in hereditary multiple exostoses.The KOUNCIL Consortium: From Genetic Defects to Therapeutic Development for Nephronophthisis.SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defectsHeparan Sulfate Organizes Neuronal Synapses through Neurexin Partnerships
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Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
description
2017 nî lūn-bûn
@nan
2017 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2017 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2017年の論文
@ja
2017年論文
@yue
2017年論文
@zh-hant
2017年論文
@zh-hk
2017年論文
@zh-mo
2017年論文
@zh-tw
2017年论文
@wuu
name
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@ast
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@en
type
label
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@ast
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@en
prefLabel
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@ast
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@en
P2093
P2860
P50
P1476
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
@en
P2093
Catherine M Cale
Chiara Bacchelli
Christine Hall
E Graham Davies
Han G Brunner
Hartmut Engels
Heleen H Arts
Jan-Maarten Cobben
Jessika Johannsen
Kai Lehmberg
P2860
P304
P356
10.1016/J.AJHG.2017.01.013
P407
P577
2017-01-21T00:00:00Z