Vissza |
Beauregard-Lacroix Eliane; Pacheco-Cuellar Guillermo; Ajeawung Norbert F.; Tardif Jessica; Dieterich Klaus; Dabir Tabib; Vind-Kezunovic Dina; White, Susan M.; Zádori Dénes; Castiglioni Claudia; Tranebjærg Lisbeth; Tørring Pernille Mathiesen; Blair Ed; Wisniewska Marzena; Camurri Maria Vittoria:
DOORS syndrome and a recurrent truncating ATP6V1B2 variant.
GENETICS IN MEDICINE, 23 (1).
pp. 149-154.
ISSN 1098-3600
(2021)
Zádori Dénes; Szalárdy Levente; Reisz Zita; Kovács Gábor Géza; Török Rita; Ajeawung Norbert F.; Vécsei László; Campeau Philippe M.; Klivényi Péter:
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.
FRONTIERS IN NEUROLOGY, 11.
Azonosító: 767-Terjedelem: 9 p.
ISSN 1664-2295
(2020)