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The XY Gonadal Agenesis Syndrome
Department of Gynecology, University of Wisconsin Center for Health Sciences and Medical School, Madison, Wisconsin, USA Department of Obstetrics, University of Wisconsin Center for Health Sciences ...
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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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Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
2 National Institute for Health Research Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK ...
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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 ...
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Applications and advances of CRISPR-Cas9 in cancer immunotherapy
Immunotherapy has emerged as one of the most promising therapeutic strategies in cancer. The clustered regularly interspaced short palindromic repeat (CRISPR)-associated protein 9 (CRISPR-Cas9) system ...
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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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Online First
Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating ...
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Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles
The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised ...
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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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Novel role for non-homologous end joining in the formation of double minutes in methotrexate-resistant colon cancer cells
Background Gene amplification is a frequent manifestation of genomic instability that plays a role in tumour progression and development of drug resistance. It is manifested cytogenetically as ...
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Risk of colorectal and endometrial cancer for carriers of mutations of the hMLH1 and hMSH2 gene: correction for ascertainment
1 Department of Medical Statistics and Bioinformatics, Leiden University Medical Centre, Leiden, Netherlands 2 The Netherlands Foundation for the Detection of Hereditary Tumours, Leiden University ...
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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 ...