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Clinical and Genetic Aspects of Phaeochromocytoma
Hormone Research in Paediatrics, 2003Phaeochromocytoma is a tumour of the adrenal medulla, which, although rare, is a major cause of correctable hypertension with a prevalence of 0.1–0.5% in the hypertensive population. Clinical symptoms include attacks of paroxysmal headache, sweating, palpitations, stress and a sense of imminent death.
OPOCHER, GIUSEPPE +4 more
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Clinical and Genetic Features of Choroideremia
Japanese Journal of Ophthalmology, 2000Background: Choroideremia is an X-linked hereditary eye disease that causes progressive degeneration of the choroid and retina and frequently leads to legal blindness in later life. Recent molecular genetic studies have revealed mutations involving the Rab escort protein (REP-1) gene localized at Xq 21.Clinical Features: The clinical picture and rate ...
Norio Ohba, Yasushi Isashiki
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Epilepsy genetics: clinical impacts and biological insights
Lancet Neurology, 2020C. Ellis, S. Petrovski, S. Berkovic
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From target discovery to clinical drug development with human genetics
Nature, 2023K. Trajanoska +5 more
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The Clinical Genetics Databases [PDF]
, 2003 This introduction to Clinical Genetics reviews a selection of major internet resources drawn from the current large and growing listing. These include genetic variation, diagnostics, laboratory services, regulatory bodies and sequence data. Each of these sites can be regarded as the starting point for a journey to the wealth of information.
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Clinical Genetics for the Pulmonologist: Introduction
Respiration, 2005International ...
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An overview of clinical molecular genetics
Molecular Biotechnology, 1997Clinical molecular genetics has only recently become recognizable as a diagnostic discipline in its own right-gradually becoming distinct from its academic-and research-based origins. This chapter seeks to give some shape and context to the contrtbutions that follow and add to previously published ideas of how diagnostic laboratories are structured and
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Thrombotic microangiopathy in aHUS and beyond: clinical clues from complement genetics
Nature Reviews Nephrology, 2021F. Fakhouri, V. Frémeaux-Bacchi
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Biliary Atresia: Epidemiology, Genetics, Clinical Update, and Public Health Perspective.
Advances in Pediatrics, 2017Amarilis Sanchez-Valle +5 more
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Clinical Genetics of Refinoblastoma
International Ophthalmology Clinics, 1993Jerry A. Shields +2 more
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