A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability ; volume:14 ; number:1 ; day:9 ; month:7 ; year:2024 ; pages:1-13 ; date:12.2024
Scientific reports ; 14, Heft 1 (9.7.2024), 1-13, 12.2024
- Urheber
-
Vinci, Mirella
Treccarichi, Simone
Galati Rando, Rosanna
Musumeci, Antonino
Todaro, Valeria
Federico, Concetta
Saccone, Salvatore
Elia, Maurizio
Calì, Francesco
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1038/s41598-024-66475-2
- URN
-
urn:nbn:de:101:1-2409262142457.282633483450
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:25 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
- Vinci, Mirella
- Treccarichi, Simone
- Galati Rando, Rosanna
- Musumeci, Antonino
- Todaro, Valeria
- Federico, Concetta
- Saccone, Salvatore
- Elia, Maurizio
- Calì, Francesco
- SpringerLink (Online service)
Ähnliche Objekte (12)
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Wnt signaling networks in autism spectrum disorder and intellectual disability
Understanding of Intentions in Children with Autism Spectrum Disorder and Intellectual Disability
Autosomal dominant intellectual disability
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Prevalence of selected clinical problems in older adults with autism and intellectual disability
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
The diagnostic trajectory in autism and intellectual disability in Quebec: pathways and parents’ perspective
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Wnt signaling networks in autism spectrum disorder and intellectual disability
Understanding of Intentions in Children with Autism Spectrum Disorder and Intellectual Disability
Autosomal dominant intellectual disability
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Prevalence of selected clinical problems in older adults with autism and intellectual disability
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
The diagnostic trajectory in autism and intellectual disability in Quebec: pathways and parents’ perspective
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability
Wnt signaling networks in autism spectrum disorder and intellectual disability
Understanding of Intentions in Children with Autism Spectrum Disorder and Intellectual Disability
Autosomal dominant intellectual disability
Identification and characterization of genes underlying for intellectual disability and autism spectrum disorder
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
Prevalence of selected clinical problems in older adults with autism and intellectual disability
Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
The diagnostic trajectory in autism and intellectual disability in Quebec: pathways and parents’ perspective
Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis