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The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Academic Journal
Popp, B.; Bartolomaeus, T.; Radtke, M.; Hentschel, J.; Lemke, J.R.; Abou Jamra, R.; Strehlow, V.; Brugger, M.; Graf, E.; Wagner, M.; Meitinger, T.; Brunet, T.; Poschmann, S.; Di Donato, N.; Rump, A.; Gburek-Augustat, J.; Sorge, I.
In: Clinical Genetics . (Clinical Genetics, February 2023, 103(2):226-230)
Academic Journal
Li, X.; Wang, Q.K.; Poschmann, S.; Chen, Q.; Fazeli, W.; Oundjian, N.J.; Snoeijen-Schouwenaars, F.M.; Fricke, O.; Willemsen, M.; Kamsteeg, E.-J.
In: European Journal of Human Genetics . (European Journal of Human Genetics, 1 February 2018, 26(2):220-229)
(Journal of General Microbiology, 1983, 129(6):1725-1731)
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제한된 항목
[AR] Poschmann, S.
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