Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
about
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity.Whole exome sequencing of suspected mitochondrial patients in clinical practice.Exome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyTargeted exome sequencing of suspected mitochondrial disorders.Multiple system atrophy: the application of genetics in understanding etiology.Next-generation sequencing for mitochondrial disordersMitochondrial disorders as windows into an ancient organelle.Multiple system atrophy of the cerebellar type: clinical state of the art.Clinical utility gene card for: Wolfram syndrome.The Diagnosis and Natural History of Multiple System Atrophy, Cerebellar Type.Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.Longitudinal hearing loss in Wolfram syndrome.
P2860
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P2860
Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease.
description
2012 nî lūn-bûn
@nan
2012 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@ast
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@en
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@nl
type
label
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@ast
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@en
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@nl
prefLabel
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@ast
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@en
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@nl
P2093
P2860
P356
P1433
P1476
Atypical case of Wolfram syndr ...... spected mitochondrial disease.
@en
P2093
Daniel S Lieber
Laura C Horton
Mark L Borowsky
Nancy G Slate
Sarah E Calvo
Scott B Vafai
Shangtao Liu
Vamsi K Mootha
P2860
P2888
P356
10.1186/1471-2350-13-3
P577
2012-01-06T00:00:00Z
P5875
P6179
1028965705