Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
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MicroRNA dynamics in a wild and cultivated species of Convolvulaceae exposed to drought stress.Genome-wide analysis reveals differential selection involved with copy number variation in diverse Chinese Cattle.Genome-wide analysis of the Solanum tuberosum (potato) trehalose-6-phosphate synthase (TPS) gene family: evolution and differential expression during development and stress.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Genomic medicine for kidney disease.Prenatal diagnosis of Joubert syndrome: A case report and literature review.Increased Sensitivity of Diagnostic Mutation Detection by Re-analysis Incorporating Local Reassembly of Sequence Reads.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Cloning and expression analysis of tps, and cryopreservation research of trehalose from Antarctic strain Pseudozyma sp.
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P2860
Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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2016年學術文章
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name
Enhanced diagnostic yield in M ...... mented with split-read mapping
@ast
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en-gb
type
label
Enhanced diagnostic yield in M ...... mented with split-read mapping
@ast
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en-gb
prefLabel
Enhanced diagnostic yield in M ...... mented with split-read mapping
@ast
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en-gb
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P2860
P50
P1154
2-s2.0-84952786588
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P1476
Enhanced diagnostic yield in M ...... mented with split-read mapping
@en
P2093
Agne Antanaviciute
Angus Dobbie
Carolina Lascelles
Ian R Berry
Laura A Crinnion
Ruth S Charlton
Sally M Harrison
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P2888
P356
10.1186/S12881-015-0265-Z
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P577
2016-01-04T00:00:00Z
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1046450900