about
Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation.Receptor-Mediated Endocytosis in the Proximal Tubule.Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.Pediatric cataract.Control of actin polymerization via the coincidence of phosphoinositides and high membrane curvature.Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.Kidney-differentiated cells derived from Lowe Syndrome patient's iPSCs show ciliogenesis defects and Six2 retention at the Golgi complex.Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy."Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations.Incidental Detection of Dent-2 Disease in an Infant with "Febrile Proteinuria".
P2860
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P2860
description
2016 nî lūn-bûn
@nan
2016 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
The oculocerebrorenal syndrome of Lowe: an update
@ast
The oculocerebrorenal syndrome of Lowe: an update
@en
The oculocerebrorenal syndrome of Lowe: an update
@nl
type
label
The oculocerebrorenal syndrome of Lowe: an update
@ast
The oculocerebrorenal syndrome of Lowe: an update
@en
The oculocerebrorenal syndrome of Lowe: an update
@nl
prefLabel
The oculocerebrorenal syndrome of Lowe: an update
@ast
The oculocerebrorenal syndrome of Lowe: an update
@en
The oculocerebrorenal syndrome of Lowe: an update
@nl
P2860
P3181
P1433
P1476
The oculocerebrorenal syndrome of Lowe: an update
@en
P2093
Arend Bökenkamp
Michael Ludwig
P2860
P2888
P304
P3181
P356
10.1007/S00467-016-3343-3
P407
P5008
P577
2016-12-01T00:00:00Z
P5875
P6179
1025489046