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

Human genetics, 2021-07, Vol.140 (7), p.1011-1029

2021

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Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Scientific reports, 2024-05, Vol.14 (1), p.11239-11239, Article 11239

2024

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Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

European journal of human genetics : EJHG, 2019-08, Vol.27 (8), p.1235-1243

2019

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Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1703-n/a

2021

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Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.532-532

2020

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Ageing and health status in adults with intellectual disabilities: Results of the European POMONA II study

Journal of intellectual & developmental disability, 2011-03, Vol.36 (1), p.49-60

2011

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Healthcare and guidelines: A population-based survey of recorded medical problems and health surveillance for people with Down syndrome

Journal of intellectual & developmental disability, 2011-06, Vol.36 (2), p.118-126

2011

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Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability

Human genetics, 2021-07, Vol.140 (7), p.1011

2021

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Mental Health, Behaviour and Intellectual Abilities of People with Down Syndrome

Down's syndrome, research and practice, 2006, Vol.11 (1), p.37-43

2006

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Developing a Set of Health Indicators for People with Intellectual Disabilities: Pomona Project

Journal of policy and practice in intellectual disabilities, 2005-09, Vol.2 (3-4), p.260-263

2005

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Sensory Impairments and Health Concerns Related to the Degree of Intellectual Disability in People with Down Syndrome

Down's syndrome, research and practice, 2006, Vol.11 (2), p.78-83

2006

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Ageing and health status in adults with intellectual disabilities: Results of the European POMONA II study

Journal of intellectual & developmental disability, 2011-01, p.1-12

2011

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Sampling and ethical issues in a multicenter study on health of people with intellectual disabilities

Journal of clinical epidemiology, 2010-10, Vol.63 (10), p.1091-1100

2010

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Intellectual abilities, adaptive behaviour and mental health in people with Down syndrome (DS)

Journal of intellectual disability research, 2004-06, Vol.48, p.337

2004

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Stroke in people with Down syndrome (DS)

Journal of intellectual disability research, 2004-06, Vol.48, p.337

2004

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Update on current care guidelines: appropriate treatment of medical problems associated with Down's syndrome

Duodecim (Helsinki, Finland : 1961), 2011, Vol.127 (4), p.364

2011

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Development of Participation in and Identification With School: Associations With Truancy

The Journal of early adolescence, 2021-03, Vol.41 (3), p.394-423

2021

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Bisphosphonate modified mesoporous silicon for scandium adsorption

Microporous and mesoporous materials, 2020-04, Vol.296, p.109980, Article 109980

2020

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Lower thoracic spine extension mobility is associated with higher intensity of thoracic spine pain

The Journal of manual & manipulative therapy, 2022-09, Vol.30 (5), p.300-308

2022

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Molecular understanding of sulphuric acid-amine particle nucleation in the atmosphere

Nature (London), 2013, Vol.502 (7471), p.359-363

2013

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Prehospital emergency care and medical preparedness for the 2005 World Championship Games in Athletics in Helsinki

Prehospital and disaster medicine, 2007-08, Vol.22 (4), p.304

2007

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

Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders

Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disorders

Correction: Phenotypic spectrum associated with a CRADD founder variant underlying frontotemporal predominant pachygyria in the Finnish population

Ageing and health status in adults with intellectual disabilities: Results of the European POMONA II study

Healthcare and guidelines: A population-based survey of recorded medical problems and health surveillance for people with Down syndrome

Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability

Mental Health, Behaviour and Intellectual Abilities of People with Down Syndrome

Developing a Set of Health Indicators for People with Intellectual Disabilities: Pomona Project

Sensory Impairments and Health Concerns Related to the Degree of Intellectual Disability in People with Down Syndrome

Ageing and health status in adults with intellectual disabilities: Results of the European POMONA II study

Sampling and ethical issues in a multicenter study on health of people with intellectual disabilities

Intellectual abilities, adaptive behaviour and mental health in people with Down syndrome (DS)

Stroke in people with Down syndrome (DS)

Update on current care guidelines: appropriate treatment of medical problems associated with Down's syndrome

Development of Participation in and Identification With School: Associations With Truancy

Bisphosphonate modified mesoporous silicon for scandium adsorption

Lower thoracic spine extension mobility is associated with higher intensity of thoracic spine pain

Molecular understanding of sulphuric acid-amine particle nucleation in the atmosphere

Prehospital emergency care and medical preparedness for the 2005 World Championship Games in Athletics in Helsinki

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