نتایج جستجو برای: osteogenesis imperfecta

تعداد نتایج: 17982  

Journal: :Archives of Disease in Childhood 1999

Journal: :The Journal of Bone and Joint Surgery. British volume 1975

Journal: :Journal of Medical Genetics 1983

Journal: :Annals of the Rheumatic Diseases 2021

Background: Osteogenesis imperfecta (OI), is a rare hereditary disease characterized by bone fragility and low mass. The clinical presenatation various with varying severity skeletal signs inconstant extra-skeletal signs. Type 1 the most common form (60% of cases). Objectives: Our objective to describe features observed over period 15 years. Methods: This retrospective descriptive study includi...

Journal: :Jurnal RSMH Palembang 2023

Osteogenesis imperfecta is a disorder of the formation collagen tissue that functions as connective and caused by gene mutation causes disturbances in type 1 collagen. This study aimed to describe diagnosis osteogenesis imperfecta. A 23-year-old man came rheumatology polyclinic Dr. Mohammad Hoesin General Hospital Palembang with complaint recurrent fractures since ± 17 years ago. The patient al...

Journal: :Wiener Medizinische Wochenschrift 2015

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