Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2056-7944
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases ; volume:3 ; number:1 ; day:9 ; month:7 ; year:2018 ; pages:1-10 ; date:12.2018
npj Genomic Medicine ; 3, Heft 1 (9.7.2018), 1-10, 12.2018
- Creator
-
Clark, Michelle M.
- Contributor
-
Stark, Zornitza
Farnaes, Lauge
Tan, Tiong Y.
White, Susan M.
Dimmock, David
Kingsmore, Stephen F.
SpringerLink (Online service)
- DOI
-
10.1038/s41525-018-0053-8
- URN
-
urn:nbn:de:101:1-2018090114271724127082
- Rights
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:20 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Clark, Michelle M.
- Stark, Zornitza
- Farnaes, Lauge
- Tan, Tiong Y.
- White, Susan M.
- Dimmock, David
- Kingsmore, Stephen F.
- SpringerLink (Online service)
Other Objects (12)
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Clinicohematological correlation and chromosomal breakage analysis in suspected Fanconi anemia patients of India
Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
Practical Applications of Chromosomal Microarray in Prenatal Diagnosis
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Clinicohematological correlation and chromosomal breakage analysis in suspected Fanconi anemia patients of India
Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis
Practical Applications of Chromosomal Microarray in Prenatal Diagnosis
Combining chromosomal microarray and clinical exome sequencing for genetic diagnosis of intellectual disability
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis
Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study
Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder
Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis
Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions
Clinicohematological correlation and chromosomal breakage analysis in suspected Fanconi anemia patients of India
Chromosomal abnormalities detected by chromosomal microarray analysis and pregnancy outcomes of 4211 fetuses with high-risk prenatal indications
Chromosomal Microarray Analysis for the Fetuses with Aortic Arch Abnormalities and Normal Karyotype
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis