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Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

Rocha, J; Guerra, C; Oliveira, R; Dória, S; Rego, R; Rosas, MJ

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should ...


Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

Rocha, J; Guerra, C; Oliveira, R; Dória, S; Rego, R; Rosas, MJ

The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should ...

Data: 2012   |   Origem: Repositório Comum


Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia ...

GRANJO, E.; LIMA, M.; LOPES, J.M.; DORIA, S.; ORFAO, A.; YING, S.; BARATA, L.T.; MIRANDA, M.; CROSS, N.C.; BAIN, B.J.

Acta Haematol. 2002;107(2):108-12. Chronic eosinophilic leukaemia presenting with erythroderma, mild eosinophilia and hyper-IgE: clinical, immunological and cytogenetic features and therapeutic approach. A case report. Granjo E, Lima M, Lopes JM, Dória S, Orfão A, Ying S, Barata LT, Miranda M, Cross NC, Bain BJ. Department of Clinical Haematology, Hospital Geral de São João, Porto, Portugal. elisagranjo@netc....


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