Genotype-phenotype correlation in Brazillian Rett syndrome patients

The identification of patients with spe- cific mutations in the FA genes may lead to a better clinical description of this condition, also providing data for

In the present study we found that 15.8% of patients had alleles carrying more than one mutation; most of them were compound heterozygotes, and the clinical form was correlated with

Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation,

Entretanto, se esses ambientes domésticos fossem projetados para atender às necessidades de usuários com diferentes habilidades e preferências diversificadas,

Our observation of circulating FR autoantibodies of the blocking type in three patients with a Rett phenotype, low CSF folate and a normal MECP2 genotype may point to a variant of

The purposes of this study were to describe the complications that lead to rebanding or conversion to laparoscopic Roux-en-Y gastric bypass (LRYGB) and

Já nos testes de equilíbrio os alunos da zona rural obtiveram uma maior porcentagem de pontuação 4 em comparação aos alunos de zona urbana, esse resultado é bastante

O estudo centra-se na descrição e interpretação da relevância da componente de Creativity, Action, Service (CAS), enquanto aprendizagem experiencial, no contexto