نتایج جستجو برای: genetic syndromes

تعداد نتایج: 687913  

Journal: :Journal of the American College of Cardiology 2000

2015
Kate A. Woodcock Chris Oliver Glyn W. Humphreys

(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...

2013
Annalisa Marcuzzi Elisa Piscianz Giulio Kleiner Alberto Tommasini Giovanni Maria Severini Lorenzo Monasta Sergio Crovella

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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