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Eine Ebene höherGruppiert nach: Dokumententyp |
Veröffentlichungsdatum
Anzahl der Publikationen: 5
2018
Schormair, B.; Kemlink, D.; Mollenhauer, B.; Fiala, O.; Machetanz, G.; Roth, J.; Berutti, R.; Strom, T. M.; Haslinger, B.; Trenkwalder, C.; Zahorakova, D.; Martasek, P.; Ruzicka, E. und Winkelmann, J.
(2018):
Diagnostic exome sequencing in early-onset Parkinson's disease confirms VPS13C as a rare cause of autosomal-recessive Parkinson's disease.
In: Clinical Genetics, Bd. 93, Nr. 3: S. 603-612
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, Bd. 93, Nr. 2: S. 255-265
2017
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, Bd. 92, Nr. 5: S. 561-562
2016
Auer-Grumbach, M.; Bennett, D. L. H.; Andersen, P.; Harms, M. B.; Reilly, M. M.; Weishaupt, J.; Strom, T. M.; Walther, T.; Scherer, S. S.; Zuchner, S.; Martini, R. und Senderek, J.
(2016):
Rare coding variants in the mme gene, encoding the metalloprotease neprilysin, are linked to late-onset axonal neuropathies.
In: Journal of the Peripheral Nervous System, Bd. 21, Nr. 3: S. 235
1987
Bidlingmaier, F.; Strom, T. M.; Dorr, H. G.; Eisenmenger, Wolfgang und Knorr, D.
(1987):
Estrone and estradiol concentrations in human ovaries, testes, and adrenals during the first two years of life.
In: Journal of Clinical Endocrinology & Metabolism, Bd. 65: S. 862-867
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