Publications

Export 2 results:
Author Title [ Year(Asc)]
Filters: Author is Kirschner, Janbernd  [Clear All Filters]
2021
Kour, S. et al. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun 12, 2558 (2021).
2020
Balaraju, S. et al. Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant. Eur J Hum Genet 28, 373-377 (2020).