Universität zu Köln

2020

Moosa, S., Yamamoto, G. L., Garbes, L., Keupp, K., Beleza-Meireles, A., Moreno, C. A., Valadares, E. R., de Sousa, S. B., Maia, S., Saraiva, J., Honjo, R. S., Kim, C. A., Cabral de Menezes, H., Lausch, E., Lorini, P. V., Lamounier, A., Jr., Carniero, T. C. B., Giunta, C., Rohrbach, M., Janner, M., Semler, O., Beleggia, F., Li, Y., Yigit, G., Reintjes, N., Altmuller, J., Nurnberg, P., Cavalcanti, D. P., Zabel, B., Warman, M. L., Bertola, D. R., Wollnik, B. and Netzer, C. (2020). Severe Osteogenesis imperfecta with oligodontia: think of MESD. Eur. J. Hum. Genet., 28 (SUPPL 1). S. 248 - 250. LONDON: SPRINGERNATURE. ISSN 1476-5438

2018

Budisteanu, M., Boegershausen, N., Papuc, S. M., Moosa, S., Thoenes, M., Riga, D., Arghir, A. and Wollnik, B. (2018). FLOATING-HARBOR SYNDROME: PRESENTATION OF THE FIRST ROMANIAN PATIENT WITH A SRCAP MUTATION AND REVIEW OF THE LITERATURE. Balk. J. Med. Gen., 21 (1). S. 83 - 87. SKOPJE: MACEDONIAN ACAD SCIENCES ARTS. ISSN 1311-0160

Cyganek, L., Hanses, U., Li, Y., Tiburcy, M., Barbarics, B., Yigit, G., Altmueller, J., Paul, T., Zimmermann, W. H., Hasenfuss, G. and Wollnik, B. (2018). Exploring hypertrophic cardiomyopathy in iPSC-derived cardiomyocytes from patients with a novel autosomal recessive form of Noonan syndrome. Eur. Heart J., 39. S. 1089 - 1090. OXFORD: OXFORD UNIV PRESS. ISSN 1522-9645

2016

Boppudi, S., Boegershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M. and Zenker, M. (2016). Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. Clin. Genet., 90 (4). S. 334 - 343. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004

Hatzold, J., Beleggia, F., Herzig, H., Bloch, W., Wollnik, B. and Hammerschmidt, M. (2016). Tumor suppression in basal keratinocytes via dual non-cell-autonomous functions of a Na,K-ATPase beta subunit. J. Invest. Dermatol., 136 (9). S. S247 - 1. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1747

Moosa, S., Chung, B. H. -Y., Tung, J. Y. -L., Altmueller, J., Thiele, H., Nuernberg, P., Netzer, C., Nishimura, G. and Wollnik, B. (2016). Mutations in SEC24D cause autosomal recessive osteogenesis imperfecta. Clin. Genet., 89 (4). S. 517 - 520. HOBOKEN: WILEY-BLACKWELL. ISSN 1399-0004

2015

Garbes, L., Kim, K., Riess, A., Hoyer-Kuhn, H., Beleggia, F., Bevot, A., Kim, M., Huh, Y., Kweon, H., Savarirayan, R., Amor, D., Kakadia, P. M., Lindig, T., Kagan, K. O., Becker, J., Boyadjiev, S. A., Wollnik, B., Semler, O., Bohlander, S. K., Netzer, C. and Kim, J. (2015). Mutations in SEC24D Cause a Syndromic Form of Osteogenesis Imperfecta with Craniofacial Dysplasia. Mol. Biol. Cell, 26. BETHESDA: AMER SOC CELL BIOLOGY. ISSN 1939-4586

2013

Beck, B. B., Wollnik, B. and Koemhoff, M. (2013). Ion channelopathies of the kidney and adrenal gland. Med. Genet., 25 (4). S. 480 - 486. NEW YORK: SPRINGER. ISSN 1863-5490

Rachwalski, M., Wollnik, B. and Kress, W. (2013). Clinical course and genetics of syndromic and non-syndromic craniosynostosis. Med. Genet., 25 (3). S. 373 - 386. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490

2012

Yigit, G. and Wollnik, B. (2012). Molecular mechanisms underlying Seckel syndrome. Med. Genet., 24 (4). S. 284 - 289. HEIDELBERG: SPRINGER HEIDELBERG. ISSN 1863-5490