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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 27, 2021
Efficient generation of osteoclasts from human induced pluripotent stem cells and functional investigations of lethal CLCN7-related osteopetrosisUta Rössler, Anna Floriane Hennig, Nina Stelzer, et al.
Nature Communications|October 13, 2016
KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targetingEva Wrobel, Ina Rothenberg, Christoph Krisp, et al.
The Journal of Clinical Investigation|September 21, 2021
Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine modelEva Auffenberg, Ulrike Bs Hedrich, Raffaella Barbieri, et al.
Human Mutation|December 3, 2009
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutationsAlessandra Pangrazio, Michael Pusch, Elena Caldana, et al.
American Journal of Human Genetics|June 29, 2021
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disordersAnna R Duncan, Maya M Polovitskaya, Héctor Gaitán-Peñas, et al.
Molecular Psychiatry|November 17, 2022
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental conditionElizabeth E Palmer, Michael Pusch, Alessandra Picollo, et al.
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