Spring til hovednavigation
Spring til søgning
Spring til hovedindhold
Københavns Universitets forskningsportal Forside
Hjælp og OSS
Dansk
English
Forside
Profiler
Publikation
Forskningsenheder
Presse/medier
Aktiviteter
Priser
???studenttheses???
Forskningsdatasæt
Søg efter ekspertise, navn eller tilknytning
A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder
Maria Barington, Lotte Risom, Jakob Ek, Peter Uldall,
Elsebet Ostergaard
Institut for Klinisk Medicin
2
Citationer (Scopus)
Oversigt
Fingeraftryk
Fingeraftryk
Dyk ned i forskningsemnerne om 'A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder'. Sammen danner de et unikt fingeraftryk.
Sorter
Vægt
Alfabetisk
Keyphrases
Seizure
100%
Autism Spectrum Disorder
100%
Intellectual Disability
100%
CUX2
100%
Missense Variants
100%
Etiology
20%
Infantile Autism
20%
Human Brain Function
20%
Causal Impact
20%
Whole Exome Sequencing
20%
Epilepsy
20%
Myoclonic Seizures
20%
Cognitive Impairment
20%
Epileptic Encephalopathy
20%
Transcription Factor
20%
Nervous Tissue
20%
Moderate to Severe
20%
Neuroscience
Pervasive Developmental Disorder
100%
Cognitive Disorder
33%
Transcription Factor
33%
Nerve Tissue
33%
Exome Sequencing
33%
Brain Disease
33%
Brain Function
33%
Myoclonic Seizure
33%
Biochemistry, Genetics and Molecular Biology
Missense
100%
Intellectual Disability
100%
Exome Sequencing
20%
Transcription Factor
20%
Brain Function
20%