Results 11 to 20 of about 4,352,139 (301)

Hypereosinophilic syndromes [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2003
Hypereosinophilic syndromes (HES) constitute a rare and heterogeneous group of disorders, defined as persistent and marked blood eosinophilia (> 1.5 x 10(9)/L for more than six consecutive months) associated with evidence of eosinophil-induced organ damage, where other causes of hypereosinophilia such as allergic, parasitic, and malignant disorders ...
Roufosse, Florence   +2 more
openaire   +7 more sources

Prevalence of the metabolic syndrome in Chinese adolescents [PDF]

open access: yes, 2008
Since national figures on the occurrence of metabolic syndrome among Chinese adolescents are lacking, this study aims to estimate its prevalence and distribution among Chinese youngsters.
Yang, X.   +6 more
core   +1 more source

Variability in fricative production of young people with Down's syndrome : an EPG analysis [PDF]

open access: yes, 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
core   +3 more sources

Marfan syndrome: An eyesight of syndrome

open access: yesMeta Gene, 2014
Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Kumar, Ashok, Agarwal, Sarita
openaire   +2 more sources

Reduced-complexity syndrome-based TTCM decoding [PDF]

open access: yes, 2013
The iterative decoder of Turbo Trellis Coded Modulation (TTCM) exchanges extrinsic information between the constituent TCM decoders, which imposes a high computational complexity at the receiver. Therefore we conceive the syndrome-based block decoding of
Ng, Soon Xin   +2 more
core   +1 more source

Pendred Syndrome, or Not Pendred Syndrome? That Is the Question [PDF]

open access: yesGenes, 2021
Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation.
Paola Tesolin   +11 more
openaire   +3 more sources

Cowden syndrome - Diagnostic skin signs [PDF]

open access: yes, 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
core   +1 more source

Myelodysplastic syndromes with nephrotic syndrome [PDF]

open access: yesAmerican Journal of Hematology, 1999
It is sometimes reported that the immunological abnormalities in myelodysplastic syndromes (MDS) induce autoimmune disease (i.e., acute systemic vasculitic syndrome, chronic cutaneous vasculitis, polyneuropathy, relapsing polychondritis, and steroid-responsive pulmonary disorders).
T, Saitoh   +10 more
openaire   +2 more sources

Metabolic Syndrome in Cushing’s Syndrome [PDF]

open access: yesNeuroendocrinology, 2010
Although the concept of metabolic syndrome (MetS) as a disease entity continues to be debated, it provides a means by which patients at risk for diabetes and cardiovascular disease can be identified and categorized with routinely available criteria. Insulin resistance plays a central role in these abnormalities.
Philippe, Chanson, Sylvie, Salenave
openaire   +2 more sources

The experience of humour in Asperger’s syndrome [PDF]

open access: yes, 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
core   +3 more sources

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