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Autor:
Opstal, D. van, Maarle, M.C. van, Lichtenbelt, K., Weiss, M.M., Schuring-Blom, H., Bhola, S.L., Hoffer, M.J.V., Huijsdens-van Amsterdam, K., Macville, M.V., Kooper, A.J.A., Faas, B.H.W., Govaerts, L., Tan-Sindhunata, G.M., Hollander, N. den, Feenstra, I., Galjaard, R.J.H., Oepkes, D., Ghesquiere, S., Brouwer, R.W.W., Beulen, L., Bollen, S., Elferink, M.G., Straver, R., Henneman, L., Page-Christiaens, G.C., Sistermans, E.A., Dutch NIPT Consortium
Publikováno v:
Genetics in Medicine, 20, 480-485
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
Genetics in Medicine
Genetics in Medicine, 20(5), 480-485. Nature Publishing Group
Genetics in medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Genetics in Medicine, 20(5), 480-485. Lippincott Williams and Wilkins
Van Opstal, D, van Maarle, M C, Lichtenbelt, K, Weiss, M M, Schuring-Blom, H, Bhola, S L, Hoffer, M J V, Huijsdens-van Amsterdam, K, Macville, M V, Kooper, A J A, Faas, B H W, Govaerts, L, Tan-Sindhunata, G M, den Hollander, N, Feenstra, I, Galjaard, R-J H, Oepkes, D, Ghesquiere, S, Brouwer, R W W, Beulen, L, Bollen, S, Elferink, M G, Straver, R, Henneman, L, Page-Christiaens, G C & Sistermans, E A 2018, ' Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS : results of the TRIDENT study ', Genetics in Medicine, vol. 20, no. 5, pp. 480-485 . https://doi.org/10.1038/gim.2017.132, https://doi.org/10.1038/gim.2017.132
Genetics in Medicine, 20, 5, pp. 480-485
Genetics in Medicine, 20(5), 480-485
Genetics in Medicine, 20(5), 480-485. Lippincott Williams & Wilkins
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origi
Autor:
Cornelia Kraus, Christiane Zweier, Rami Abou Jamra, Patricia Klinger, Sarah Schuhmann, Nadine N. Hauer, Steffen Uebe, Heinrich Sticht, Christian Thiel, Christian Büttner, Helmuth-Günther Dörr, Arif B. Ekici, Karen E. Heath, Fulvia Ferrazzi, Bernt Popp, Antje Wiesener, Alfonso Hisado-Oliva, Erdmute Kunstmann, Anita Rauch, Martin Zenker, Eva Schoeller, Dagmar Wieczorek, André Reis, Udo Trautmann
Publikováno v:
Genetics in Medicine
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Purpose Short stature is a common condition of great concern to patients and their families. Mostly genetic in origin, the underlying cause often remains elusive due to clinical and genetic heterogeneity. Methods We systematically phenotyped 565 pati
Autor:
Wylie, Burke, Hilary, Burton, Alison E, Hall, Mohamed, Karmali, Muin J, Khoury, Bartha, Knoppers, Eric M, Meslin, Fiona, Stanley, Caroline F, Wright, Ronald L, Zimmern, Charles, Rotimi
Publikováno v:
Genetics in Medicine, 12(12), 785-791. Nature Publishing Group
The decade following the completion of the Human Genome Project has been marked by divergent claims about the utility of genomics for improving population health. On the one hand, genomics is viewed as the harbinger of a brave new world in which nove