Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Rolf Stottmann"'
Autor:
Swetha Ramadesikan, Caitlyn Colwell, Mohammad Marhabaie, Leeran Dublin-Ryan, Iftekhar Showpnil, Umamaheswaran Gurusamy, Jesse Hunter, Allison Daley, Elizabeth Varga, Marco Leung, Rolf Stottmann, Bimal Chaudhari, Scott Hickey, Peter White, Daniel Koboldt, Richard Wilson
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101080- (2024)
Externí odkaz:
https://doaj.org/article/fad6429f01c340d3a5b62d38ac73cd53
Autor:
Dianne Laboy Cintron, Alison M. Muir, Abbey Scott, Marie McDonald, Kristin G. Monaghan, Teresa Santiago-Sim, Ingrid M. Wentzensen, Chiara De Luca, Francesco Brancati, David J. Harris, Cecilia Goueli, Rolf Stottmann, Carlos E. Prada, Marta Biderman Waberski, Heather C. Mefford
Publikováno v:
HGG Advances, Vol 3, Iss 1, Pp 100072- (2022)
Summary: We report seven affected individuals from six families with a recurrent, de novo variant in the ARPC4 gene (c.472C>T [p.Arg158Cys (GenBank: NM_005718.4)]). Core features in affected individuals include microcephaly, mild motor delays, and si
Externí odkaz:
https://doaj.org/article/b7eeb57bf1484bb7b4de6d3ef729ce71
Autor:
Rolf Stottmann
Publikováno v:
Human molecular genetics. 31(18)
Publikováno v:
Genetics in Medicine. 24:S162
Autor:
Smits, D. J., Magini, P., Vandervore, L., Schot, R., Columbaro, M., Kasteleijn, E., Ent, M., Palombo, F., Iommarini, L., Lequin, M. H., Porcelli, A. M., Govaert, P., Dremmen, M., Wit, M. C. Y., Severino, M., Divizia, M. T., Ordonez-Herrera, N., Alhashem, A., Al Fares, A., Al Ghamdi, M., Rolfs, A., Bauer, P., Demmers, J., Verheijen, F., Wilke, M., Slegtenhorst, M., Spek, P., Jansen, A., Rolf Stottmann, Hufnagel, R., Hopkin, R., Aljeaid, D., Wiszniewski, W., Gawlinski, P., Dobyns, W. B., Seri, M., Pippucci, T., Fornerod, M., Mancini, G. M. S.
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1dd3d2c8b6f7ba5fb41f9276e1f61087
https://publons.com/wos-op/publon/28735854/
https://publons.com/wos-op/publon/28735854/