about
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindnessA Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night BlindnessHomozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.Insight into the role of Ca2+-binding protein 5 in vesicle exocytosis.Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindnessTRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandAutofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosaDevelopment and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.Assessing retinal structure in complete congenital stationary night blindness and Oguchi diseaseProtein phosphatase 2A dephosphorylates CaBP4 and regulates CaBP4 function.Electroretinographic findings in a patient with congenital stationary night blindness due to a novel NYX mutation.Calcium binding protein-mediated regulation of voltage-gated calcium channels linked to human diseases.Mouse b-wave mutants."mGlu Receptors in the Retina" - WIREs Membrane Transport and Signaling.Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
P2860
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P2860
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Genotyping microarray for CSNB-associated genes.
@en
type
label
Genotyping microarray for CSNB-associated genes.
@en
prefLabel
Genotyping microarray for CSNB-associated genes.
@en
P2093
P50
P356
P1476
Genotyping microarray for CSNB-associated genes
@en
P2093
Alex V Levin
Bart P Leroy
Bernd Wissinger
Birgit Lorenz
Charlotte M Poloschek
Christian P Hamel
Christoph Friedburg
Daniel F Schorderet
Dorothee Leifert
Francis L Munier
P304
P356
10.1167/IOVS.09-3548
P407
P50
P577
2009-07-02T00:00:00Z