نتایج جستجو برای: ehlers
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Peter Ehlers was to give a speech at the 2nd Session of Assembly (2020) in Monaco, which mark 100th anniversary International Hydrographic Organization (IHO). Sadly, cancelled due exceptional circumstances posed by COVID-19 pandemic. His words were left unspoken. Nevertheless, as still had something significance say, we are now publishing manuscript his intended speech.greatest risk climate cha...
Dear Sir, The early identification of hereditary syndromes is essential for planning medical and surgical interventions for reducing the risk of complications [1]. Unfortunately, clinical phenotypes of hereditary syndromes in the first years of life and in mild cases are often poorly characterized. Some disease symptoms are also common to several different genetic conditions. Cleidocranial dysp...
Nereis falsa de Quatrefages, 1866 has been regarded as a cosmopolitan species, and several species described from different localities have junior synonyms of N. falsa. The present study is an attempt to resolve the taxonomic confusion in falsa, which seems contain distinct due previous inappropriate synonymy, widely distributed Atlantic eastern Pacific Oceans. For this purpose, authors first p...
ehlers-danlos syndrome (eds vi)(omim 225400) is an autosomal recessive disease of the connective tissue. it is characterized by severe hypotonia at birth, progressive kyphoscoliosis, skin hyperelasticity, joint hypermobility, microcornea, rupture of arteries and eye globe, and osteopenia. collagen lysyl hydroxylase is deficient in these patients. deficiency of the activity of lysyl hydroxylase,...
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity-related pain and some go on to have daily pain. Two undifferen...
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