Found: 22
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Aspartylglycosaminuria: a review.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0544-6
- By:
- Publication type:
- Article
X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-49
- By:
- Publication type:
- Article
X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Intellectual disability in patients with epilepsy with eyelid myoclonias.
- Published in:
- SAGE Open Medical Case Reports, 2018, v. 6, p. 1, doi. 10.1177/2050313X18777951
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- Publication type:
- Article
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland.
- Published in:
- Human Genetics, 2021, v. 140, n. 7, p. 1011, doi. 10.1007/s00439-021-02268-1
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- Publication type:
- Article
Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
- Published in:
- 2023
- By:
- Publication type:
- Case Study
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyria.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63478
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- Publication type:
- Article
Natural history of alpha‐thalassemia X‐linked intellectual disability syndrome: A case report of a 45‐year‐old man.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2164, doi. 10.1002/ajmg.a.62213
- By:
- Publication type:
- Article
Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219Arg in SLC13A5: A case report.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 11, p. 2671, doi. 10.1002/ajmg.a.61802
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- Publication type:
- Article
Two middle‐aged women with the Finnish variant of muscle‐eye‐brain disease (MEB).
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 12, p. 2481, doi. 10.1002/ajmg.a.61369
- By:
- Publication type:
- Article
A 69‐year‐old woman with Coffin–Siris syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 8, p. 1764, doi. 10.1002/ajmg.a.38844
- By:
- Publication type:
- Article
Mortality in individuals with intellectual disabilities in Finland.
- Published in:
- Brain & Behavior, 2016, v. 6, n. 2, p. n/a, doi. 10.1002/brb3.431
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- Publication type:
- Article
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-62009-y
- By:
- Publication type:
- Article
Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea.
- Published in:
- Acta Obstetricia et Gynecologica Scandinavica, 2009, v. 88, n. 4, p. 428, doi. 10.1080/00016340902763244
- By:
- Publication type:
- Article
Report of a novel missense mutation in the MECP2 gene in a middle-aged man with intellectual disability syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Cognition in adults with Williams syndrome—A 20‐year follow‐up study.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.695
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- Publication type:
- Article
Signs indicating dementia in Down, Williams and Fragile X syndromes.
- Published in:
- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 5, p. 855, doi. 10.1002/mgg3.430
- By:
- Publication type:
- Article
Reliability and validity of the Portage assessment scale for clinical studies of mentally handicapped populations.
- Published in:
- Child: Care, Health & Development, 1993, v. 19, n. 2, p. 89, doi. 10.1111/j.1365-2214.1993.tb00716.x
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- Publication type:
- Article
Screening of dementia indicating signs in adults with intellectual disabilities.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2021, v. 34, n. 6, p. 1463, doi. 10.1111/jar.12888
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- Publication type:
- Article
Ageing and cognition in men with fragile X syndrome.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2020, v. 33, n. 5, p. 1113, doi. 10.1111/jar.12733
- By:
- Publication type:
- Article
Age at Death in Individuals with Intellectual Disabilities.
- Published in:
- Journal of Applied Research in Intellectual Disabilities, 2017, v. 30, n. 4, p. 782, doi. 10.1111/jar.12269
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- Publication type:
- Article