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Journal article
Braunisch, M. C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski-Feder, E.; Maldergem, L. van; Lammens, M.; Kovacs-Nagy, R.; Alhaddad, B.; Strom, T. M.; Meitinger, T.; Senderek, J.; Rudnik-Schöneborn, Sabine und Haack, T. B.
(2018):
Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.
In: Clinical Genetics, Vol. 93, No. 2: pp. 255-265
Bublitz, S. K.; Alhaddad, B.; Synofzik, M.; Kuhl, V.; Lindner, A.; Freiberg, C.; Schmidt, H.; Strom, T. M.; Haack, T. B. und Deschauer, M.
(2017):
Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
In: Clinical Genetics, Vol. 92, No. 5: pp. 561-562