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Neurodevelopmental disorders
Publication
Class
Person
Publication
Programmes
publication
Genetics of neurodevelopmental disorders
2021 |
Second Faculty of Medicine
publication
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
2020 |
Second Faculty of Medicine
publication
Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant
2021 |
Second Faculty of Medicine
publication
Developmental Language Disorder: Wake and Sleep Epileptiform Discharges and Co-morbid Neurodevelopmental Disorders
2020 |
First Faculty of Medicine
publication
Novel Familial IQSEC2 Pathogenic Sequence Variant Associated With Neurodevelopmental Disorders and Epilepsy
2020 |
Second Faculty of Medicine
publication
Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders
2024 |
Second Faculty of Medicine
publication
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
2021 |
First Faculty of Medicine
publication
Dystonia as a prominent feature of TCF20-associated neurodevelopmental disorder: Expanding the phenotype
2022 |
First Faculty of Medicine
publication
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders
2020 |
Central Library of Charles University
publication
Sleep in neurological and neurodevelopmental disorders
2017 |
First Faculty of Medicine
publication
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
2021 |
Second Faculty of Medicine
publication
De novo variants in neurodevelopmental disorders with epilepsy
2018 |
Second Faculty of Medicine
publication
ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures
2023 |
First Faculty of Medicine
publication
Neurometabolic, neurodegenerative and neurodevelopmental disorders
2013 |
First Faculty of Medicine
publication
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
2016 |
Second Faculty of Medicine
publication
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
2024 |
Second Faculty of Medicine
publication
The Gut Microbiome, Mental Health, and Cognitive and Neurodevelopmental Disorders: A Scoping Review
2022 |
Faculty of Science
publication
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
2017 |
Second Faculty of Medicine
publication
Neurodevelopmental disorder associated with IRF2BPL gene mutation: Expanding the phenotype?
2019 |
First Faculty of Medicine
publication
A Neurodevelopmental Disorder With Dystonia and Chorea Resulting From Clustering CAMK4 Variants
2021 |
First Faculty of Medicine
publication
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia
2019 |
First Faculty of Medicine
publication
Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder
2022 |
Second Faculty of Medicine
publication
SOXopathies and dystonia: Consolidation of a recurrent association
2024 |
First Faculty of Medicine
publication
OPIOID PEPTIDES IN THE URINE AND SEROLOGICAL MARKERS OF GLUTEN AND MILK INTOLERANCE IN PATIENTS WITH NEURODEVELOPMENTAL DISORDERS: A PILOT STUDY.
Publication without faculty affiliation
publication
ADHD in childhood, adolescence, and adulthood
2016 |
First Faculty of Medicine
publication
Delineation of functionally essential protein regions for 242 neurodevelopmental genes
2022 |
Faculty of Mathematics and Physics
publication
Elkonin's method as an effective tool for preventing difficulties with acquiring literacy skills in children with neurodevelopmental disorders of language and speech
2022 |
Faculty of Education
publication
Myoclonic dystonia phenotype related to a novel calmodulin-binding transcription activator 1 sequence variant
2021 |
First Faculty of Medicine
publication
Language-cognitive profiles in children with developmental language disorder
2023 |
Faculty of Education
publication
MicroRNA-34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
2021 |
Second Faculty of Medicine