Maria Arvio
Publications 
1 of 2
- Älyllisen kehitysvammaisuuden genetiikka - etiologia ja etiologian selvittely (2023)
- Duodecim
(D1 Article in a professional journal) - A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria (2023)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Medicine use in people with intellectual disabilities: a Finnish nationwide register study (2022)
- Journal of Intellectual Disability Research
(A1 Refereed original research article in a scientific journal) - Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland (2021)
- Human Genetics
(A1 Refereed original research article in a scientific journal) - Natural history of alpha-thalassemia X-linked intellectual disability syndrome: A case report of a 45-year-old man (2021)
- American Journal of Medical Genetics Part A
(B1 Non-refereed article in a scientific journal) - Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome (2021)
- Clinical Case Reports
(A1 Refereed original research article in a scientific journal) - Ruokavaliosta apu lapsuusiän autismiin ja kehitysvammaan liittyviin väkivaltaisiin käytösoireisiin (2021)
- Lääkärilehti
(D1 Article in a professional journal) - Screening of dementia indicating signs in adults with intellectual disabilities (2021)
- Journal of Applied Research in Intellectual Disabilities
(A1 Refereed original research article in a scientific journal) - Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report (2020)
- American Journal of Medical Genetics Part A
(B1 Non-refereed article in a scientific journal) - Ageing and cognition in men with fragile X syndrome (2020)
- Journal of Applied Research in Intellectual Disabilities
(A1 Refereed original research article in a scientific journal) - Cognition in adults with Williams syndrome — A 20-year follow-up study (2019)
- Molecular Genetics and Genomic Medicine
(A1 Refereed original research article in a scientific journal) - Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females (2019)
- Life Science Alliance
(A1 Refereed original research article in a scientific journal) - Kehitysvammaisen henkilön kipu (2019)
- Kipuviesti
(D1 Article in a professional journal) - Sähköhoito saattaa vähentää väkivaltaista käytöstä kehitysvammaisilla autismikirjon potilailla (2019)
- Duodecim
(D1 Article in a professional journal) - Two middle-aged women with the Finnish variant of muscle-eye-brain disease (MEB) (2019)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - A 69-year-old woman with Coffin-Siris syndrome (2018)
- American Journal of Medical Genetics Part A
(A1 Refereed original research article in a scientific journal) - Intellectual disability in patients with epilepsy with eyelid myoclonias (2018)
- SAGE Open Medical Case Reports
(A1 Refereed original research article in a scientific journal) - Kehitysvammaisen muistisairauksien arviointiin tarvitaan oma työkalu (2018)
- Lääkärilehti
(D1 Article in a professional journal) - Kehitysvamma on elinikäinen (2018)
- Duodecim
(A2 Refereed review article in a scientific journal ) - Signs indicating dementia in Down, Williams and Fragile X syndromes (2018)
- Molecular Genetics and Genomic Medicine
(A1 Refereed original research article in a scientific journal)
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