Variability in fricative production of young people with Down's syndrome : an EPG analysis [PDF]
, 2007 Speech production in Down's syndrome is highly variable, with particular problems arising from complex articulations such as fricatives. In this paper, EPG analysis is used to study the variation in the production of the fricatives /s/ and /sh/ in 6 ...
Hardcastle, William +4 more
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Cowden syndrome - Diagnostic skin signs [PDF]
, 2001 Cowden syndrome is a rare autosomal dominant familial cancer syndrome with a high risk of breast cancer. The most important clinical features include carcinomas of the breast and thyroid, and hamartomatous polyps of the gastrointestinal tract.
Burgdorf, Walter H. C. +5 more
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WWOX in brain development and disease: Molecular mechanisms and therapeutic opportunities
Neurobiology of DiseaseThe WW domain–containing oxidoreductase (WWOX) gene, located at the common fragile site FRA16D, has emerged as a key molecular link between genome instability and nervous system biology.
Mustafa Obeid +4 more
doaj +1 more source
The effect of sodium valproate in Cushing's disease, Nelson's syndrome and Addison's disease [PDF]
, 1988 We investigated the effect of sodium valproate on plasma ACTH and serum cortisol concentrations in different pathological states of ACTH hypersecretion.
Winkelmann, W. +4 more
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General practitioners' perceptions of chronic fatigue syndrome and beliefs about its management, compared with irritable bowel syndrome: qualitative study [PDF]
, 2004 OBJECTIVES: To compare general practitioners' perceptions of chronic fatigue syndrome and irritable bowel syndrome and to consider the implications of their perceptions for treatment.
Tom Sensky +11 more
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The experience of humour in Asperger’s syndrome [PDF]
, 2010 A Thesis submitted in fulfilment of the requirements of the University of Wolverhampton for the degree of Doctor of Counselling Psychology.This study investigated the experience of humour of people with Asperger’s syndrome.
Ruggeri, Susan
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, 1999 OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries.
Working Group on Down Syndrome +4 more
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Scimitar syndrome in infancy [PDF]
, 2008 Scimitar syndrome, if presenting in infancy, is associated with signs of heart failure and pulmonary hypertension. The typical pathological features are sequestration of a segment of the lung, usually the right lower lobe, with arterial supply ...
Sreeram, Narayanswami +3 more
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Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
, 2005 Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie +3 more
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A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]
, 2010 The neuroleptic malignant syndrome is a rare and potentially lethal reaction which is usually associated with the use of medications with antidopaminergic properties.
Ferry, Peter +2 more
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