Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
about
SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data.Next-generation sequencing-based molecular diagnosis of 35 Hispanic retinitis pigmentosa probandsThe phenotypic variability of HK1-associated retinal dystrophy.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental AnomaliesA Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data.Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.
P2860
Q31169803-3B1C44ED-AA0C-4080-AE7F-85E8F48B16D6Q37232822-66CA0138-B86A-40A0-BA58-26C78254D529Q41203581-F218F2B0-4610-4881-BDD7-9DBD4C4715FAQ41871046-14B8F396-146B-4F04-8024-FDBDE833AF97Q42038690-A5AEC8AC-E304-47AD-BB48-BE83FF89E19DQ46538670-D3CC9C08-3465-4159-ACA2-B377DA037730Q47239563-007EC3B1-D8C1-43BF-9C4A-A3C34668AA30Q52647919-72E60B6F-8974-47E3-87B3-66F4375C6424
P2860
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity.
description
2016 nî lūn-bûn
@nan
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
2016年论文
@zh
2016年论文
@zh-cn
name
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@ast
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@en
type
label
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@ast
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@en
prefLabel
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@ast
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@en
P2093
P2860
P356
P1433
P1476
Next-generation sequencing-bas ...... probands of Uyghur ethnicity.
@en
P2093
Abulikemu Tajiguli
Aiden Eblimit
Haji Akber Aisa
Keqing Wang
Mingchu Xu
Rouzimaimaiti Yiming
Ruifang Sui
P2860
P2888
P356
10.1038/SREP21384
P407
P577
2016-02-09T00:00:00Z