Aspartylglycosaminuria: a review

por Arvio, Maria, Mononen, Ilkka
Publicado 2016

Mortality in individuals with intellectual disabilities in Finland

por Arvio, Maria, Salokivi, Tommi, Tiitinen, Aila, Haataja, Leena
Publicado 2016

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome

por Arvio, Maria, Haanpää, Maria, Pohjola, Pia, Lähdetie, Jaana
Publicado 2021

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation

por Kankuri‐Tammilehto, Minna, Sauna‐aho, Oili, Arvio, Maria
Publicado 2021

Intellectual disability in patients with epilepsy with eyelid myoclonias

por Arvio, Maria, Sauna-aho, Oili, Nyrke, Timo, Bjelogrlic-Laakso, Nina
Publicado 2018

Signs indicating dementia in Down, Williams and Fragile X syndromes

por Sauna‐Aho, Oili, Bjelogrlic‐Laakso, Nina, Siren, Auli, Arvio, Maria
Publicado 2018

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

por Arvio, Maria, Lähdetie, Jaana, Koivu, Hannu, Sohlberg, Antti, Pekkonen, Eero
Publicado 2023

Cognition in adults with Williams syndrome—A 20‐year follow‐up study

por Sauna‐aho, Oili, Bjelogrlic‐Laakso, Nina, Sirén, Auli, Kangasmäki, Virpi, Arvio, Maria
Publicado 2019

Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

por Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl
Publicado 2019

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

por Philips, Anju K, Sirén, Auli, Avela, Kristiina, Somer, Mirja, Peippo, Maarit, Ahvenainen, Minna, Doagu, Fatma, Arvio, Maria, Kääriäinen, Helena, Van Esch, Hilde, Froyen, Guy, Haas, Stefan A, Hu, Hao, Kalscheuer, Vera M, Järvelä, Irma
Publicado 2014

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland

por Järvelä, Irma, Määttä, Tuomo, Acharya, Anushree, Leppälä, Juha, Jhangiani, Shalini N., Arvio, Maria, Siren, Auli, Kankuri-Tammilehto, Minna, Kokkonen, Hannaleena, Palomäki, Maarit, Varilo, Teppo, Fang, Mary, Hadley, Trevor D., Jolly, Angad, Linnankivi, Tarja, Paetau, Ritva, Saarela, Anni, Kälviäinen, Reetta, Olme, Jan, Nouel-Saied, Liz M., Cornejo-Sanchez, Diana M., Llaci, Lorida, Lupski, James R., Posey, Jennifer E., Leal, Suzanne M., Schrauwen, Isabelle
Publicado 2021