Maria Arvio: search on Z-Library

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1

Intellectual disability in patients with epilepsy with eyelid myoclonias

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

Journal:

SAGE Open Medical Case Reports

Year:

2018

Language:

english

File:

PDF, 103 KB

english, 2018

2

Adult phenotype of the homozygous missense mutation c. 655G >A, p. Gly219Arg in SLC13A5 : A case report

Arvio, Maria, LÃ¤hdetie, Jaana

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 5.97 MB

2020

3

Signs indicating dementia in Down, Williams and Fragile X syndromes

Sauna-Aho, Oili, Bjelogrlic-Laakso, Nina, Siren, Auli, Arvio, Maria

Journal:

Molecular Genetics & Genomic Medicine

Year:

2018

Language:

english

File:

PDF, 479 KB

english, 2018

4

Aspartylglycosaminuria: a review

Arvio, Maria, Mononen, Ilkka

Journal:

Orphanet Journal of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 1.48 MB

english, 2016

5

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

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

Journal:

Molecular Genetics & Genomic Medicine

Year:

2019

Language:

english

File:

PDF, 576 KB

english, 2019

6

Predictors of completion of upper secondary education of young adults with severe physical and multiple disabilities in Finland

Heräjärvi, Nina U., O. Leskinen, Markku, A. Pirttimaa, Raija, J. Jokinen, Kimmo, A. Arvio, Maria

Journal:

European Journal of Special Needs Education

Year:

2019

Language:

english

File:

PDF, 1.48 MB

english, 2019

7

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

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,

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

8

Reliability and validity of the Portage assessment scale for clinical studies of mentally handicapped populations

MARIA ARVIO, JARKKO HAUTAMÄKI, PIRKKO TILIKKA

Journal:

Child: Care, Health and Development

Year:

1993

Language:

english

File:

PDF, 2.55 MB

english, 1993

9

Delayed auditory processing underlying stimulus detection in Down syndrome

Eero Pekkonen, Daria Osipova, Oili Sauna-Aho, Maria Arvio

Journal:

Year:

2007

Language:

english

File:

PDF, 140 KB

english, 2007

10

Dysmorphic facial features in aspartylglucosaminuria patients and carriers

Arvio, Maria A., Peippo, Maarit M., Arvio, Pekka J., K????ri??inen, Helena A.

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 325 KB

english, 2004

11

The serum level of interleukin-6 in patients with intellectual disability and refractory epilepsy

Kai A. Lehtimäki, Suvi Liimatainen, Jukka Peltola, Maria Arvio

Journal:

Epilepsy Research

Year:

2011

Language:

english

File:

PDF, 107 KB

english, 2011

12

Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB)

Arvio, Maria, Määttänen, Laura, Haanpää, Maria, Lähdetie, Jaana

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.10 MB

english, 2019

13

Down Syndrome - Onset Age of Dementia

Maria, Arvio, Laakso Nina M, Bjelogrlic

Journal:

Journal of Alzheimer's Disease & Parkinsonism

Year:

2017

Language:

english

File:

PDF, 743 KB

english, 2017

14

The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome

Verna Louhivuori, Maria Arvio, Pia Soronen, Virpi Oksanen, Tiina Paunio, Maija L. Castrén

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 140 KB

english, 2009

15

Blood dolichol in lysosomal diseases

Jokelainen, Kalle, Salmela, Katja S., Humaloja, Kari, Roine, Risto, Autio, Seppo, Arvio, Maria, Järvelä, Irma, Nykänen, Irma, Palo, Jorma, Salaspuro, Mikko

Journal:

Biochemistry and Cell Biology

Year:

1992

Language:

english

File:

PDF, 677 KB

english, 1992

16

A 69-year-old woman with Coffin-Siris syndrome

Määttänen, Laura, Hietala, Marja, Ignatius, Jaakko, Arvio, Maria

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 486 KB

english, 2018

17

Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea

MARIA ARVIO, PÄIVI KILPINEN-LOISA, AILA TIITINEN, KARI HUOVINEN, OUTI MÄKITIE

Journal:

Acta Obstetricia et Gynecologica Scandinavica

Year:

2009

Language:

english

File:

PDF, 85 KB

english, 2009

18

Impaired oral health in patients with aspartylglucosaminuria

Pekka Arvio, Maria Arvio, Juhani Wolf, Pirjo-Liisa Lukinmaa, Leena Saxen, Sinikka Pirinen

Journal:

Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology

Year:

1998

Language:

english

File:

PDF, 1.23 MB

english, 1998

19

Excessive infantile growth and early pubertal growth spurt: Typical features in patients with aspartylglycosaminuria

Pekka Arvio, Maria Arvio, Eino Marttinen, Ilkka Sipilä, Sinikka Pirinen

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 158 KB

english, 1999

20

Age at Death in Individuals with Intellectual Disabilities

Arvio, Maria, Salokivi, Tommi, Bjelogrlic-Laakso, Nina

Journal:

Journal of Applied Research in Intellectual Disabilities

Year:

2017

Language:

english

File:

PDF, 129 KB

english, 2017

21

Mortality in individuals with intellectual disabilities in Finland

Arvio, Maria, Salokivi, Tommi, Tiitinen, Aila, Haataja, Leena

Journal:

Brain and Behavior

Year:

2016

Language:

english

File:

PDF, 90 KB

english, 2016

22

Ageing and cognition in men with fragile X syndrome

Sauna-aho, Oili, Bjelogrlic-Laakso, Nina, Rautava, PÃ¤ivi, Arvio, Maria

Journal:

Journal of Applied Research in Intellectual Disabilities

Year:

2020

File:

PDF, 405 KB

2020

23

Response

Virpi Oksanen, Maria Arvio, Maarit Peippo, Leena Valanne, Kimmo Sainio

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 41 KB

english, 2004

24

Predictors of completion of upper secondary education of young adults with severe physical and multiple disabilities in Finland

Heräjärvi, Nina U., O. Leskinen, Markku, A. Pirttimaa, Raija, J. Jokinen, Kimmo, A. Arvio, Maria

Journal:

European Journal of Special Needs Education

Year:

2019

File:

PDF, 1.48 MB

2019

25

EXOME REPORT: Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion

Carroll, Renee, Shaw, Marie, Arvio, Maria, Gardner, Alison, Kumar, Raman, Hodgson, Bree, Heron, Sarah, McKenzie, Fiona, JÃ¤rvelÃ¤, Irma, Gecz, Jozef

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 1.27 MB

2020

26

Temporo-occipital spikes: a typical EEG finding in Kabuki syndrome

Virpi E Oksanen, Maria A Arvio, Maarit M Peippo, Leena K Valanne, Kimmo O Sainio

Journal:

Pediatric Neurology

Year:

2004

Language:

english

File:

PDF, 387 KB

english, 2004

27

Bone marrow transplantation for aspartylglucosaminuria: Follow-up study of transplanted and non-transplanted patients

Maria Arvio, Oili Sauna-aho, Maarit Peippo

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 60 KB

english, 2001

28

Down syndrome in adults: A 27-year follow-up of adaptive skills

Arvio, Maria, Luostarinen, Liisa

Journal:

Clinical Genetics

Year:

2016

Language:

english

File:

PDF, 407 KB

english, 2016

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