 | Up a level |
2014
Bolz, Hanno Joern, Kron, Anja, Eisenberger, Tobias, Decker, Christian, Seipel, Barbara, Kraus, Cornelia, Bergmann, Carsten and Neuhaus, Christine (2014). Targeted NGS Incidentally Reveals Klinefelter Syndrome in a Patient with X-Linked Recessive Retinitis Pigmentosa and Skewed X Inactivation. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Naumann, Anja, Kraus, Cornelia, Hoogeveen, Andre, Ramirez, Christina M. and Doerfler, Walter (2014). Stable DNA Methylation Boundaries and Expanded Trinucleotide Repeats: Role of DNA Insertions. J. Mol. Biol., 426 (14). S. 2554 - 2567. LONDON: ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD. ISSN 1089-8638
2013
Zweier, Christiane 
ORCID: 0000-0001-8002-2020, Kraus, Cornelia, Brueton, Louise, Cole, Trevor, Degenhardt, Franziska, Engels, Hartmut, Gillessen-Kaesbach, Gabriele, Graul-Neumann, Luitgard, Horn, Denise, Hoyer, Juliane, Just, Walter, Rauch, Anita ORCID: 0000-0003-2930-3163, Reis, Andre ORCID: 0000-0002-6301-6363, Wollnik, Bernd, Zeschnigk, Michael, Luedecke, Hermann-Josef and Wieczorek, Dagmar ORCID: 0000-0003-2812-6492
(2013).
A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.
J. Med. Genet., 50 (12).
S. 838 - 848.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244