Results 181 to 190 of about 45,554 (278)
[X-linked intellectual disability syndrome with macrocephaly due to BRWD3 gene deletion]. [PDF]
Rev NeurolArroyo-Carrera I +4 more
europepmc +1 more source
Medicine Bulletin, EarlyView.ABSTRACT Background Several studies show that large language models (LLMs) struggle with phenotype‐driven gene prioritization for rare diseases. These studies typically use Human Phenotype Ontology (HPO) terms to prompt foundation models such as GPT and LLaMA to predict candidate genes.
Zhanliang Wang +3 more
wiley +1 more source
A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants. [PDF]
Mol Syndromol, 2020 Sandestig A +4 more
europepmc +1 more source
Movement Disorders Clinical Practice, EarlyView.ABSTRACT Background Classifying abnormal tongue movements is challenging due to their varied presentations and limited visibility compared to other body parts. Accurate identification of the phenomenology guides physical examination and can point to specific diagnoses.
Nathaniel Bendahan +4 more
wiley +1 more source
MDSGene Systematic Review of Common Forms of Dominant Hereditary Spastic Paraplegia: Novel Insights
Movement Disorders Clinical Practice, EarlyView.Abstract Background Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder characterized by progressive spasticity and lower limb weakness. The most common forms of autosomal dominant HSP are caused by pathogenic variants in SPAST (SPG4 or HSP‐SPAST), ATL1 (SPG3A or HSP‐ATL1), and REEP1 (SPG31 or HSP‐REEP1).
Ce Kang +24 more
wiley +1 more source
Novel USP9X variants in two patients with X-linked intellectual disability. [PDF]
Hum Genome Var, 2019 Tsurusaki Y +9 more
europepmc +1 more source