 | Up a level |
Journal Article
Di Donato, Nataliya 
ORCID: 0000-0001-9439-4677, Kuechler, Alma, Vergano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmueller, Janine, Boegershausen, Nina, Timms, Andrew E., Hackmann, Karl, Schrock, Evelin, Collins, Sarah, Olds, Carissa, Rump, Andreas ORCID: 0000-0001-7116-6364 and Dobyns, William B.
(2016).
Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.
Am. J. Med. Genet. A, 170 (10).
S. 2644 - 2652.
HOBOKEN:
WILEY.
ISSN 1552-4833
Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A., Parnell, Shawn E., Benet-Pages, Anna, Nissen, Anke M., Berger, Wolfgang, Altmueller, Janine, Thiele, Holger, Weber, Bernhard H. F., Schrock, Evelin, Dobyns, William B., Bier, Andrea and Rump, Andreas ORCID: 0000-0001-7116-6364
(2016).
Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
J. Med. Genet., 53 (6).
S. 419 - 426.
LONDON:
BMJ PUBLISHING GROUP.
ISSN 1468-6244
Schrock, Evelin, Benet-Pages, Anna, Schuber, Steffen, Janavicius, Ramunas, Hackmann, Karl, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Lehmann, Janin, Nissen, Am, Altmueller, Janine, Thiele, Holger, Di Donato, Nataliya ORCID: 0000-0001-9439-4677, Klink, Barbara, Kuhlmann, Jan D., Tzschach, Andreas ORCID: 0000-0002-6840-965X, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Meind, Alfons, Emmert, Steffen and Rump, Andreas
(2015).
Germline mutations in patients with hereditary breast and ovarian cancer establish ERCC2 as a cancer susceptibility gene.
Cancer Res., 75.
PHILADELPHIA:
AMER ASSOC CANCER RESEARCH.
ISSN 1538-7445