نتایج جستجو برای: genetic syndromes
تعداد نتایج: 687913 فیلتر نتایج به سال:
(2009). Task switching deficits and repetitive behaviour in genetic neurodevelopmental disorders: Data from children with Prader-Willi syndrome chromosome 15 q11-q13 deletion and boys with Fragile-X syndrome. ABSTRACT Prader-Willi (PWS) and Fragile-X syndromes (FraX) are associated with distinctive cognitive and behavioural profiles. We examined whether repetitive behaviours in the two syndrome...
Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of period...
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