Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability ; volume:13 ; number:1 ; day:20 ; month:12 ; year:2023 ; pages:1-8 ; date:12.2023
Scientific reports ; 13, Heft 1 (20.12.2023), 1-8, 12.2023
- Creator
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Kim, Jaewon
Lee, Jaewoong
Jang, Dae-Hyun
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41598-023-50285-z
- URN
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urn:nbn:de:101:1-2024030614135105018129
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 11:00 AM CEST
Data provider
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kim, Jaewon
- Lee, Jaewoong
- Jang, Dae-Hyun
- SpringerLink (Online service)
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Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
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The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing
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Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Exome sequencing identifies novel and known mutations in families with intellectual disability
Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability
Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders
Autosomal dominant intellectual disability
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Genetic analysis of 280 children with unexplained developmental delay or intellectual disability using whole exome sequencing
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes
Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family