The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2045-2322
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families ; volume:12 ; number:1 ; day:7 ; month:11 ; year:2022 ; pages:1-12 ; date:12.2022
Scientific reports ; 12, Heft 1 (7.11.2022), 1-12, 12.2022
- Urheber
-
Al-Kasbi, Ghalia
Al-Murshedi, Fathiya
Al-Kindi, Adila
Al-Hashimi, Nadia
Al-Thihli, Khalid
Al-Saegh, Abeer
Al-Futaisi, Amna
Al-Mamari, Watfa
Al-Asmi, Abdullah
Bruwer, Zandre
Al-Kharusi, Khalsa
Al-Rashdi, Samiya
Zadjali, Fahad
Al-Yahyaee, Said
Al-Maawali, Almundher
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-022-22036-z
- URN
-
urn:nbn:de:101:1-2023012110565852067899
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:23 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
- Al-Kasbi, Ghalia
- Al-Murshedi, Fathiya
- Al-Kindi, Adila
- Al-Hashimi, Nadia
- Al-Thihli, Khalid
- Al-Saegh, Abeer
- Al-Futaisi, Amna
- Al-Mamari, Watfa
- Al-Asmi, Abdullah
- Bruwer, Zandre
- Al-Kharusi, Khalsa
- Al-Rashdi, Samiya
- Zadjali, Fahad
- Al-Yahyaee, Said
- Al-Maawali, Almundher
- SpringerLink (Online service)
Ähnliche Objekte (12)
Intellectual disability genomics: current state, pitfalls and future challenges
Autosomal dominant intellectual disability
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
Genetics of autosomal recessive intellectual disability
Intellectual disability and nutrition‐related health
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP
Identification and characterization of mechanisms underlying intellectual disability
Genomic imbalances defining novel intellectual disability associated loci
Calcium channelopathies and intellectual disability: a systematic review
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
Intellectual disability genomics: current state, pitfalls and future challenges
Autosomal dominant intellectual disability
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
Genetics of autosomal recessive intellectual disability
Intellectual disability and nutrition‐related health
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP
Identification and characterization of mechanisms underlying intellectual disability
Genomic imbalances defining novel intellectual disability associated loci
Calcium channelopathies and intellectual disability: a systematic review
Single gene microdeletions and microduplication of 3p26.3 in three unrelated families: CNTN6 as a new candidate gene for intellectual disability
Intellectual disability genomics: current state, pitfalls and future challenges
Autosomal dominant intellectual disability
Identification and characterization of candidate genes in individuals with autosomal recessive intellectual disability
Genetics of autosomal recessive intellectual disability
Intellectual disability and nutrition‐related health
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP
Identification and characterization of mechanisms underlying intellectual disability
Genomic imbalances defining novel intellectual disability associated loci
Calcium channelopathies and intellectual disability: a systematic review