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Facial dysmorphism is influenced by ethnic background of the patient and of the evaluator

Autor: Lumaka, A, Cosemans, N, Lulebo Mampasi, A, Mubungu, G, Mvuama, N, Lubala, T, Mbuyi-Musanzayi, S, Breckpot, J, Holvoet, M, de Ravel, T, Van Buggenhout, G, Peeters, H, Donnai, D, Mutesa, L, Verloes, A, Lukusa Tshilobo, P, Devriendt, K

The evaluation of facial dysmorphism is a critical step toward reaching a diagnostic. The aim of the present study was to evaluate the ability to interpret facial morphology in African children with intellectual disability (ID). First, 10 experienced

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1694321e6442ebd642ff76a049d1a24f
https://lirias.kuleuven.be/handle/123456789/560298

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Autor: Thuresson, A. C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton-Smith, Jill, Soussi Zander, C.

Publikováno v: Thuresson, A C, Van Buggenhout, G, Sheth, F, Kamate, M, Andrieux, J, Clayton-Smith, J & Soussi Zander, C 2016, ' Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development ', Clinical Genetics . https://doi.org/10.1111/cge.12797

Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3818::511d023a63d891cea4feb9f3f95f55df
https://pure.manchester.ac.uk/ws/files/38535646/37112362.Thuresson_et_al_author_accepted.docx

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Social cognition and underlying cognitive mechanisms in children with an extra X chromosome: A comparison with autism spectrum disorder

Autor: van Rijn, S., Stockmann, L., van Buggenhout, G., van Ravenswaaij-Arts, C., Swaab, H.

Publikováno v: Genes, Brain and Behaviour, 13(5), 459-467. Wiley-Blackwell

Individuals with an extra X chromosome are at increased risk for autism symptoms. This study is the first to assess theory of mind and facial affect labeling in children with an extra X chromosome. Forty-six children with an extra X chromosome (29 bo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::5e882afa3d4a80fc7ffee92e64ebede6
https://research.rug.nl/en/publications/ee93bcb1-9bf3-4020-b907-97fca2588dfc