نتایج جستجو برای: ehlers

تعداد نتایج: 3933  

Journal: :International Hydrographic Review 2023

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...

2014
Maria Francesca Bedeschi Francesca Bonarrigo Francesca Manzoni Donatella Milani Maria Rosaria Piemontese Sophie Guez Susanna Esposito

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...

Journal: :European journal of taxonomy 2021

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...

Journal: :Proceedings of the Royal Society of Medicine 1969

Journal: :The Journal of Bone and Joint Surgery. British volume 1959

Journal: :genetics in the 3rd millennium 0
آریانا کریمی نژاد ariana kariminejad kariminejad-najmabadi pathology & genetics center علیرضا خاتمی alireza khatami محمد حسن کریمی نژاد mohammad hassan kariminejad بیت استینمن beat steinmann

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,...

Journal: :American journal of medical genetics. Part C, Seminars in medical genetics 2017
Brad Tinkle Marco Castori Britta Berglund Helen Cohen Rodney Grahame Hanadi Kazkaz Howard Levy

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...

Journal: :Proceedings of the Royal Society of Medicine 1937

Journal: :The Journal of Bone and Joint Surgery. British volume 1969

Journal: :Proceedings of the Royal Society of Medicine 1961

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