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Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.

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第一作者: Karen L,Stals
第一单位: Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
作者单位: Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. [1] Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. [2] Molecular Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.;Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. [3] Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK. [4] Department of Clinical Genetics, Our Lady's Children's Hospital, Dublin, Ireland. [5] North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Harrow, UK. [6] Guy's Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, UK. [7] Oxford Regional Clinical Genetics Service, Northampton General Hospital, Northampton, UK. [8] Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. [9] West Midlands Medical Genetics Department, Birmingham Women's Hospital, Birmingham, UK. [10] Department of Clinical Genetics, City Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK. [11] South West Thames Regional Genetics Service, St George's University Hospitals NHS Foundation Trust, London, UK. [12] Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. [13] Department of Clinical Genetics, Liverpool Women's NHS Foundation Trust, Liverpool, UK. [14] Department of Clinical Genetics, University Hospital Bristol, Bristol, UK. [15] Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, UK. [16] Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Vic, Australia. [17] Leicester Clinical Genetics, Women's and Children's Services, Leicester Royal Infirmary, Leicester, UK. [18] Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.;Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.;Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. [19]
DOI 10.1002/pd.5175
PMID 29096039
发布时间 2023-11-12
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Prenatal diagnosis

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