New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Item
http://www.wikidata.org/entity/Q34530586
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesLethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological Features.NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.De novo CTBP1 variant is associated with decreased mitochondrial respiratory chain activities.Early Infantile Leigh-like SLC19A3 Gene Defects Have a Poor Prognosis: Report and Review.Compound heterozygous SLC19A3 mutations further refine the critical promoter region for biotin-thiamine-responsive basal ganglia disease.Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?Neonatal encephalocardiomyopathy caused by mutations in VARS2."Transcriptomics": molecular diagnosis of inborn errors of metabolism via RNA-sequencing.NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Psychological Assessment of Patients With Biotin-Thiamine-Responsive Basal Ganglia Disease.Revisiting mitochondrial diagnostic criteria in the new era of genomics.Frequency of inborn errors of metabolism screening for children with unexplained acute encephalopathy at an emergency department.OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause
P2860

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.

Item
http://www.wikidata.org/entity/Q34530586
description
2016 nî lūn-bûn
@nan
2016 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2016年の論文
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2016年論文
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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
name
New perspective in diagnostics ...... a national paediatric centre.
@ast
New perspective in diagnostics ...... a national paediatric centre.
@en
New perspective in diagnostics ...... a national paediatric centre.
@nl
type
label
New perspective in diagnostics ...... a national paediatric centre.
@ast
New perspective in diagnostics ...... a national paediatric centre.
@en
New perspective in diagnostics ...... a national paediatric centre.
@nl
prefLabel
New perspective in diagnostics ...... a national paediatric centre.
@ast
New perspective in diagnostics ...... a national paediatric centre.
@en
New perspective in diagnostics ...... a national paediatric centre.
@nl
P1433
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P2093
P2860
P2888
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New perspective in diagnostics ...... a national paediatric centre.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932