about
A complex of BBS1 and NPHP7 is required for cilia motility in zebrafishNephronophthisis and related syndromesCholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia.Juvenile nephronophthisis and dysthyroidism: a rare associationTargeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromesLoss of the ciliary kinase Nek8 causes left-right asymmetry defects.Gli-similar proteins: their mechanisms of action, physiological functions, and roles in disease.IQCB1 and PDE6B mutations cause similar early onset retinal degenerations in two closely related terrier dog breedsSenior Loken Syndrome.Early-Onset Progressive Retinal Atrophy Associated with an IQCB1 Variant in African Black-Footed Cats (Felis nigripes).Next-generation sequencing for research and diagnostics in kidney disease.Renal phenotype in Bardet-Biedl syndrome: a combined defect of urinary concentration and dilution is associated with defective urinary AQP2 and UMOD excretion.A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies.Expression profiles of NPHP1 in the germ cells in the semen of men with male factor infertility.A Large-Scale Multi-ancestry Genome-wide Study Accounting for Smoking Behavior Identifies Multiple Significant Loci for Blood Pressure.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Metabolic Phenotyping of Anks3 Depletion in mIMCD-3 cells - a Putative Nephronophthisis Candidate.
P2860
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P2860
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Nephronophthisis: a genetically diverse ciliopathy
@en
type
label
Nephronophthisis: a genetically diverse ciliopathy
@en
prefLabel
Nephronophthisis: a genetically diverse ciliopathy
@en
P2093
P2860
P356
P1476
Nephronophthisis: a genetically diverse ciliopathy
@en
P2093
Ann Marie Hynes
Lorraine Eley
Roslyn J Simms
P2860
P304
P356
10.4061/2011/527137
P577
2011-05-15T00:00:00Z