Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1755-8794
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration ; volume:14 ; number:1 ; day:10 ; month:3 ; year:2021 ; pages:1-12 ; date:12.2021
BMC medical genomics ; 14, Heft 1 (10.3.2021), 1-12, 12.2021
- Urheber
-
Ma, Dae Joong
Lee, Hyun-Seob
Kim, Kwangsoo
Choi, Seongmin
Jang, Insoon
Cho, Seo-Ho
Yoon, Chang Ki
Lee, Eun Kyoung
Yu, Hyeong Gon
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s12920-021-00874-6
- URN
-
urn:nbn:de:101:1-2021042919404249668644
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:44 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
- Ma, Dae Joong
- Lee, Hyun-Seob
- Kim, Kwangsoo
- Choi, Seongmin
- Jang, Insoon
- Cho, Seo-Ho
- Yoon, Chang Ki
- Lee, Eun Kyoung
- Yu, Hyeong Gon
- SpringerLink (Online service)
Ähnliche Objekte (12)
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia
Whole-exome sequencing of a pedigree segregating asthma
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
Genomic alterations in gastric cancers discovered via whole-exome sequencing
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
WEP: a high-performance analysis pipeline for whole-exome data
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia
Whole-exome sequencing of a pedigree segregating asthma
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
Genomic alterations in gastric cancers discovered via whole-exome sequencing
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
WEP: a high-performance analysis pipeline for whole-exome data
Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia
Whole-exome sequencing of a pedigree segregating asthma
Clinical and genetic profiling of nevoid basal cell carcinoma syndrome in Korean patients by whole-exome sequencing
Whole-exome sequencing identifies MYO15A mutations as a cause of autosomal recessive nonsyndromic hearing loss in Korean families
Comprehensive comparison of three commercial human whole-exome capture platforms
Human whole-exome genotype data for Alzheimer’s disease
Genomic alterations in gastric cancers discovered via whole-exome sequencing
EXCAVATOR: detecting copy number variants from whole-exome sequencing data
Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?