The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

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http://www.wikidata.org/entity/Q30900506
Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome.Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse.Strain-Dependent Anterior Segment Dysgenesis and Progression to Glaucoma in Col4a1 Mutant Mice.Modulation of Mammary Gland Development and Milk Production by Growth Hormone Expression in GH Transgenic GoatsGenotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.Induction of initial steps of angiogenic differentiation and maturation of endothelial cells by pericytes in vitro and the role of collagen IV.Novel COL4A2 variant in a large pedigree: Consequences and dilemmas.COL4A1 and fetal vascular origins of schizencephaly.The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations.Neuroimaging in Dementia.Neonatal stroke and haematuria: Answers.Identification of transcriptome signature for predicting clinical response to bevacizumab in recurrent glioblastoma.
P2860

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.

Item
http://www.wikidata.org/entity/Q30900506
description
2015 nî lūn-bûn
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2015 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
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
@zh-tw
2015年论文
@wuu
name
The expanding phenotype of COL ...... nd a review of the literature.
@ast
The expanding phenotype of COL ...... nd a review of the literature.
@en
type
label
The expanding phenotype of COL ...... nd a review of the literature.
@ast
The expanding phenotype of COL ...... nd a review of the literature.
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prefLabel
The expanding phenotype of COL ...... nd a review of the literature.
@ast
The expanding phenotype of COL ...... nd a review of the literature.
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P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698
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P1433
P1476
The expanding phenotype of COL ...... and a review of the literature
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P698