Maria Arvio
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- Älyllisen kehitysvammaisuuden genetiikka - etiologia ja etiologian selvittely (2023)
- DuodecimClinical Case Reports
- A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria (2023)
- American Journal of Medical Genetics Part A
- Medicine use in people with intellectual disabilities: a Finnish nationwide register studyScreening of dementia indicating signs in adults with intellectual disabilities (2022)
- Journal of Intellectual Disability ResearchJournal of Applied Research in Intellectual Disabilities
- Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland (2021)
- Human GeneticsAmerican Journal of Medical Genetics Part A
- Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old manAgeing and cognition in men with fragile X syndrome (2021)
- American Journal of Medical Genetics Part A
- Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndromeCognition in adults with Williams syndrome — A 20-year follow-up study (2021)
- Ruokavaliosta apu lapsuusiän autismiin ja kehitysvammaan liittyviin väkivaltaisiin käytösoireisiinHeterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females (2021)
- LääkärilehtiLife Science Alliance
- (2021)
- Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report (2020)
- (2020)
- Journal of Applied Research in Intellectual Disabilities
- (2019)
- Molecular Genetics and Genomic Medicine
- (2019)
- Kehitysvammaisen henkilön kipu (2019)
- Kipuviesti
- Sähköhoito saattaa vähentää väkivaltaista käytöstä kehitysvammaisilla autismikirjon potilailla (2019)
- Duodecim
- Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
- A 69-year-old woman with Coffin-Siris syndrome (2018)
- American Journal of Medical Genetics Part A
- Intellectual disability in patients with epilepsy with eyelid myoclonias (2018)
- SAGE Open Medical Case Reports
- Kehitysvammaisen muistisairauksien arviointiin tarvitaan oma työkalu (2018)
- Lääkärilehti
- Kehitysvamma on elinikäinen (2018)
- Duodecim
- Signs indicating dementia in Down, Williams and Fragile X syndromes (2018)
- Molecular Genetics and Genomic Medicine
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