Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE) study: prospective cohort study and systematic review.

Autor: Mone, F., Eberhardt, R. Y., Morris, R. K., Hurles, M. E., McMullan, D. J., Maher, E. R., Lord, J., Chitty, L. S., Giordano, J. L., Wapner, R. J., Kilby, M. D., Kan, A. S. Y., Chung, B. H. Y.

Publikováno v: Ultrasound in Obstetrics & Gynecology; Jan2021, Vol. 57 Issue 1, p43-51, 9p

Fetal exome sequencing for isolated increased nuchal translucency: should we be doing it?

Autor: Mellis R; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK., Eberhardt RY; Wellcome Sanger Institute, Hinxton, UK., Hamilton SJ; NHS Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., McMullan DJ; NHS Central and South Genomic Laboratory Hub, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK., Kilby MD; Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Metabolism and Systems Research, College of Medical Sciences, University of Birmingham, Birmingham, UK., Maher ER; Department of Medical Genetics, University of Cambridge, Cambridge, UK.; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Hurles ME; Wellcome Sanger Institute, Hinxton, UK., Giordano JL; Department of OBGYN, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal V; Department of Pathology and Cell Biology, Vagelos College of Physicians and Surgeons, New York, NY, USA., Goldstein DB; Institute for Genomic Medicine, Vagelos College of Physicians and Surgeons, New York, NY, USA., Wapner RJ; Department of OBGYN, Columbia University Irving Medical Center, New York, NY, USA., Chitty LS; Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK.; NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.

Publikováno v: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2022 Jan; Vol. 129 (1), pp. 52-61. Date of Electronic Publication: 2021 Sep 14.