Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

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Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

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2013 nî lūn-bûn

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2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

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2013年论文

@zh

2013年论文

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name

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

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Item

label

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

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prefLabel

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

@en

P1476

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome

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P2093

Amelia Holme

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Anna Straatman-Iwanowska

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Carol I Inward

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Jennifer A Hurcombe

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Richard J Coward

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P2860

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights

Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization

Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Albumin-to-creatinine ratio in random urine samples might replace 24-h urine collections in screening for micro- and macroalbuminuria in pregnant woman with type 1 diabetes

Renal thrombotic microangiopathy in mice with combined deletion of endocytic recycling regulators EHD3 and EHD4.

Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters.

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

ARC syndrome: an expanding range of phenotypes.

Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

P304

183-188

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P31

scholarly article

P356

10.1093/CKJ/SFS182

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P433

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P478

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P50

Paul Gissen

P577

2013-01-29T00:00:00Z

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P5875

273557757

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P698

26019847

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P932

4432437

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