Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Item
http://www.wikidata.org/entity/Q43942585
Genomic evidence for rod monochromacy in sloths and armadillos suggests early subterranean history for XenarthraTargeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.De novo point mutations in patients diagnosed with ataxic cerebral palsy.Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.Rhodopsin F45L Allele Does Not Cause Autosomal Dominant Retinitis Pigmentosa in a Large Caucasian Family.Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutantsNext-generation sequencing in childhood disorders.Genetic variations and diseases in UniProtKB/Swiss-Prot: the ins and outs of expert manual curation.Mutation analysis of TGFBI and KRT12 in a case of concomitant keratoconus and granular corneal dystrophy.Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.Pushing the limits of photoreception in twilight conditions: The rod-like cone retina of the deep-sea pearlsides.Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.The economic case for precision medicine.
P2860

Next-generation sequencing in health-care delivery: lessons from the functional analysis of rhodopsin.

Item
http://www.wikidata.org/entity/Q43942585
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@en
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@nl
type
label
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@en
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@nl
prefLabel
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@en
Next-generation sequencing in ...... ctional analysis of rhodopsin.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P356
P1433
P1476
Next-generation sequencing in ...... nctional analysis of rhodopsin
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698