A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: A guide for the diagnosis of rare and undiagnosed disease: beyond the exome ; volume:14 ; number:1 ; day:28 ; month:2 ; year:2022 ; pages:1-22 ; date:12.2022
Genome medicine ; 14, Heft 1 (28.2.2022), 1-22, 12.2022

Creator: Marwaha, Shruti
Knowles, Joshua W.
Ashley, Euan A.

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-022-01026-w

URN: urn:nbn:de:101:1-2022052720304246344401

Rights: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:34 AM CEST

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Marwaha, Shruti
Knowles, Joshua W.
Ashley, Euan A.
SpringerLink (Online service)

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A guide for the diagnosis of rare and undiagnosed disease: beyond the exome

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Other Objects (12)

Mining beyond the exome

Whole-exome analysis of 177 pediatric patients with undiagnosed diseases

Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

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Serotonin syndrome: a rare undiagnosed cause of hyperpyrexia

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Serotonin syndrome: a rare undiagnosed cause of hyperpyrexia

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Mining beyond the exome

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Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases

Identifying rare variants from exome scans: the GAW17 experience

Serotonin syndrome: a rare undiagnosed cause of hyperpyrexia

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

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