2025

Loss-of-function variant in KCNH3 is associated with global developmental delay, autistic behavior, insomnia, and nocturnal seizures
Bauer C, Kortüm F, Möllring A, Grinstein L, Denecke J, Alawi M, Bähring R, Harms F
SEIZURE-EUR J EPILEP. 2025 [Epub ahead of print];129:14-21.

2024

The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
Hinić S, Cybulski C, Van der Post R, Vos J, Schuurs-Hoeijmakers J, Brugnoletti F, Koene S, Vreede L, van Zelst-Stams W, Kets C, Haadsma M, Spruijt L, Wevers M, Evans D, Wimmer K, Schnaiter S, Volk A, Möllring A, de Putter R, Soikkonen L, Kahre T, Tooming M, de Jong M, Vaz F, Mensenkamp A, Genuardi M, Lubinski J, Ligtenberg M, Hoogerbrugge N, de Voer R
GENET MED. 2024;26(5):.

Letzte Aktualisierung aus dem FIS: 18.04.2025 - 00:34 Uhr