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Cardiovascular manifestations in 75 patients with Williams syndrome
Objective: The prevalence and types of various cardiovascular diseases in different age groups as well as the outcomes of cardiac surgery and other interventions were assessed in a population of 75 ...
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Family history of breast cancer as a determinant of the risk of developing endometrial cancer: a nationwide cohort study
1 Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Room 7022, Executive Plaza South, 6120 Executive Blvd, Rockville, MD 20852, USA 2 Department ...
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Testing for osteogenesis imperfecta in cases of suspected non-accidental injury
1 Public Health Genetics Program, University of Washington, Seattle, WA 98195, USA 2 Department of Pathology, University of Washington, Seattle, WA 98195, USA 3 Department of Medicine, University of ...
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Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
Correspondence to Dr Francesca Maltecca, Division of Genetics and Cell Biology IRCCS Ospedale San Raffaele and Università Vita-Salute San Raffaele, Via Olgettina 58, Milan 20132, Italy; ...
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Reproductive counselling for women with myotonic dystrophy
1 Regional Genetics Service, A Floor, Belfast City Hospital Trust, Lisburn Road, Belfast BT9 7AB, Northern Ireland 2 Department of Medical Genetics, The Queen's University of Belfast, Lisburn Road, ...
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UKCGG Consensus Group guidelines for the management of patients with constitutional TP53 pathogenic variants
2 North West Thames Regional Genetics Service, Kennedy-Galton Centre, London North West University Healthcare NHS Trust, Harrow, UK This is an open access article distributed in accordance with the ...