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Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3.
Genome Med. 2019.
PMID: 31203817
Free PMC article.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Neveling K, Mensenkamp AR, Derks R, Kwint M, Ouchene H, Steehouwer M, van Lier B, Bosgoed E, Rikken A, Tychon M, Zafeiropoulou D, Castelein S, Hehir-Kwa J, Tjwan Thung D, Hofste T, Lelieveld SH, Bertens SM, Adan IB, Eijkelenboom A, Tops BB, Yntema H, Stokowy T, Knappskog PM, Høberg-Vetti H, Steen VM, Boyle E, Martin B, Ligtenberg MJ, Shendure J, Nelen MR, Hoischen A.
Neveling K, et al. Among authors: zafeiropoulou d.
Clin Chem. 2017 Feb;63(2):503-512. doi: 10.1373/clinchem.2016.263897. Epub 2016 Dec 14.
Clin Chem. 2017.
PMID: 27974384
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Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis.
Zazo-Seco C, Plaisancié J, Bitoun P, Corton M, Arteche A, Ayuso C, Schneider A, Zafeiropoulou D, Gilissen C, Roche O, Frémont F, Calvas P, Slavotinek A, Ragge N, Chassaing N.
Zazo-Seco C, et al. Among authors: zafeiropoulou d.
J Hum Genet. 2020 May;65(5):487-491. doi: 10.1038/s10038-020-0726-x. Epub 2020 Feb 3.
J Hum Genet. 2020.
PMID: 32015378
Clinical Trial.
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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes.
Ragge N, Isidor B, Bitoun P, Odent S, Giurgea I, Cogné B, Deb W, Vincent M, Le Gall J, Morton J, Lim D; DDD Study; Le Meur G, Zazo Seco C, Zafeiropoulou D, Bax D, Zwijnenburg P, Arteche A, Swafiri ST, Cleaver R, McEntagart M, Kini U, Newman W, Ayuso C, Corton M, Herenger Y, Jeanne M, Calvas P, Chassaing N.
Ragge N, et al. Among authors: zafeiropoulou d.
Hum Genet. 2019 Sep;138(8-9):1051-1069. doi: 10.1007/s00439-018-1896-x. Epub 2018 Jul 4.
Hum Genet. 2019.
PMID: 29974297
Free article.
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Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Marouane A, Neveling K, Deden AC, van den Heuvel S, Zafeiropoulou D, Castelein S, van de Veerdonk F, Koolen DA, Simons A, Rodenburg R, Westra D, Mensenkamp AR, de Leeuw N, Ligtenberg M, Matthijsse R, Pfundt R, Kamsteeg EJ, Brunner HG, Gilissen C, Feenstra I, de Boode WP, Yntema HG, van Zelst-Stams WAG, Nelen M, Vissers LELM.
Marouane A, et al. Among authors: zafeiropoulou d.
Front Genet. 2024 Jan 8;14:1304520. doi: 10.3389/fgene.2023.1304520. eCollection 2023.
Front Genet. 2024.
PMID: 38259611
Free PMC article.
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