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Number of items: 3.

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

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum. Genet., 134 (1). S. 45 - 52. NEW YORK: SPRINGER. ISSN 1432-1203

This list was generated on Wed May 25 08:38:38 2022 CEST.