Autor/in Polovitskaya, Maya M Agolini, Emanuele 1 Barbini, Carlo 1 Bertelli, Sara 1 Bocchinfuso, Gianfranco 1 Calligari, Paolo 1 Ciolfi, Andrea 1 Cole, F Sessions 1 Duncan, Anna R 1 England, Elaina M 1 Gaitán-Peñas, Héctor 1 Grant, Patricia E 1 Harms, Frederike L 1 Lovgren, Alysia Kern 1 Martinelli, Diego 1 Niceta, Marcello 1 O'Donnell-Luria, Anne 1 Rizza, Teresa 1 Stella, Lorenzo 1 Valivullah, Zaheer 1 VanNoy, Grace E 1 alle zeigenListe einklappen
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders Duncan, Anna R Polovitskaya, Maya M Gaitán-Peñas, Héctor Bertelli, Sara VanNoy, Grace E Grant, Patricia E O'Donnell-Luria, Anne 2021 - Forschungsinformationssystem des UKE
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration Polovitskaya, Maya M Barbini, Carlo Martinelli, Diego Harms, Frederike L Cole, F Sessions Calligari, Paolo Bocchinfuso, Gianfranco 2020 - Forschungsinformationssystem des UKE
