Pränatalmedizin, Gynäkologie und Genetik (MVZ) GbR
Industry / private company
Location:
Nürnberg,
Germany (DE)
ISNI: -
Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature (2022)
Himmelreich N, Dimitrov B, Zielonka M, Hullen A, Hoffmann GF, Juenger H, Muller H, et al.
Journal article
Haploinsufficiency of NR4A2 is associated with a neurodevelopmental phenotype with prominent language impairment (2017)
Reuter M, Krumbiegel M, Schlueter G, Ekici AB, Reis A, Zweier C
Journal article