Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity ; volume:14 ; number:1 ; day:11 ; month:11 ; year:2013 ; pages:1-8 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (11.11.2013), 1-8, 12.2013

Creator: DaRe, Jeana T.

Contributor: Vasta, Valeria
Penn, John
Tran, Nguyen-Thao B.
Hahn, Si Houn
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-118

URN: urn:nbn:de:1111-2016071516876

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:58 AM CEST

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DaRe, Jeana T.
Vasta, Valeria
Penn, John
Tran, Nguyen-Thao B.
Hahn, Si Houn
SpringerLink (Online service)

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Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity

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Other Objects (12)

Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

PaCBAM: fast and scalable processing of whole exome and targeted sequencing data

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Increased diagnostic yield by reanalysis of whole exome sequencing data in mitochondrial disease

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Correction: PaCBAM: fast and scalable processing of whole exome and targeted sequencing data

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

SNES: single nucleus exome sequencing

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PaCBAM: fast and scalable processing of whole exome and targeted sequencing data

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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease

Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

SNES: single nucleus exome sequencing

Exome sequencing in hereditary nephropathies

PaCBAM: fast and scalable processing of whole exome and targeted sequencing data

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature

Increased diagnostic yield by reanalysis of whole exome sequencing data in mitochondrial disease

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Correction: PaCBAM: fast and scalable processing of whole exome and targeted sequencing data

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Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

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