Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Severe Developmental Delay and Behavior Abnormalities in a Patient with De Novo CAMK2B Mutation: A Case Report and Literature Review.
Zhang KK et al.
Annals of Indian Academy of Neurology, 2024
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardation.
Horii Y et al.
European Journal of Medical Genetics, 2023
Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations.
Borghi R et al.
Neuroscience and Biobehavioral Reviews, 2023
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
33862582 (PubMed )
Supplement: mmc3.xlsx › S5
A familial case of CAMK2B mutation with variable expressivity.
Heiman P et al.
Sage Open Medical Case Reports, 2021
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S et al.
American Journal of Medical Genetics. Part A, 2020
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S et al.
American Journal of Human Genetics, 2017
Select a paper to view details