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A case of de novo complex chromosomal abnormality involving a t(8;10) and an in...

Interstitial deletions of the long arm of chromosome 5 involving the region 5q33.1-q34 are rare occurrences. The clinical features of patients carrying similar deletions include dysmorphic facial features, such as epicanthus, retrognatia, protruding left ear and asymmetric mouth, high-arched palate, four inger lines and clinodactyly of digits II and V on both hands. We report on a female child aged 13 presentin...

Análise da fiabilidade e repetibilidade de ferramenta de análise ergonómica : o...

Tese de mestrado. Engenharia de Segurança e Higiene Ocupacionais. Faculdade de Engenharia. Universidade do Porto. 2009

Detection of subtelomeric rearrangements in 1180 patients: FISH and MLPA contri...

Mental retardation (MR) is a major social, educational, and health problem affecting 3% of the population. Subtelomeric chromosome aberrations are one of the major causes of MR with or without multiple anomalies; previous studies have shown that these rearrangements are responsible for 3-6% of unexplained mental retardation. Between 2000-2010 in the Cytogenetics Unit, Centro de Genética Médica Jacinto de Magal...

Chromosome 1p36 deletion syndrome: a report on 4 cases

Chromosome 1p36 deletion syndrome (MIM #607872) was first described in 1997 by Shapira et al. This condition is compatible with a monosomy of the 1p36 band in the distal region of the short arm of chromosome 1 and is the most common terminal deletion in humans, with an estimated prevalence of approximately 1 in 5,000 live births. This constitutional deletion is associated with mental retardation, developmental...

Influence of structural features on portuguese toddler child care quality

Influência de características estruturais na qualidade em contexto de creche

Quantidade, qualidade e adequação das interacções adulto-criança em creches da ...

Qualidade em contexto de creche na área metropolitana do Porto

A Política de Defesa como Política Interdepartamental

Puericultura intra-uterina