Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
Online-Ressource, 1 online resource.
- Sprache
-
Englisch
- Erschienen in
-
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders ; volume:16 ; number:1 ; day:21 ; month:8 ; year:2023 ; pages:1-10 ; date:12.2023
BMC medical genomics ; 16, Heft 1 (21.8.2023), 1-10, 12.2023
- Urheber
-
Xintong, Zhu
Kexin, Zhang
Junwen, Wang
Ziyi, Wang
Na, Luo
Hong, Guo
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s12920-023-01628-2
- URN
-
urn:nbn:de:101:1-2023110607572479431294
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:53 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Xintong, Zhu
- Kexin, Zhang
- Junwen, Wang
- Ziyi, Wang
- Na, Luo
- Hong, Guo
- SpringerLink (Online service)
Ähnliche Objekte (12)
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing of a pedigree segregating asthma
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Comprehensive comparison of three commercial human whole-exome capture platforms
Genomic alterations in gastric cancers discovered via whole-exome sequencing
Human whole-exome genotype data for Alzheimer’s disease
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing of a pedigree segregating asthma
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Comprehensive comparison of three commercial human whole-exome capture platforms
Genomic alterations in gastric cancers discovered via whole-exome sequencing
Human whole-exome genotype data for Alzheimer’s disease
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Whole-exome sequencing applications in prenatal diagnosis of fetal bowel dilatation
Early Prenatal Diagnosis of Cornelia de Lange's Syndrome with Whole-Exome Sequencing: A Case Report
Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center
Prenatal whole-exome sequencing for fetal structural anomalies: a retrospective analysis of 145 Chinese cases
Whole-exome sequencing of a pedigree segregating asthma
Contribution of uniparental disomy to fetal growth restriction: a whole-exome sequencing series in a prenatal setting
Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?
Comprehensive comparison of three commercial human whole-exome capture platforms
Genomic alterations in gastric cancers discovered via whole-exome sequencing
Human whole-exome genotype data for Alzheimer’s disease