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Author/Creator Meitinger, T.

1. Genotype‐guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two‐step approach. (13th August 2019)

Authors:
Krenn, M.; Tomschik, M.; Rath, J.; Cetin, H.; Grisold, A.; Zulehner, G.; Milenkovic, I.; Stogmann, E.; Zimprich, A.; Strom, T. M.; Meitinger, T.; Wagner, M.; Zimprich, F.
Journal:
European journal of neurology
Issue:
Volume 27:Number 1(2020)
Page Start:
51
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

4. Extension of the phenotype of biallelic loss‐of‐function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I. Issue 2 (8th November 2017)

Authors:
Braunisch, M.C.; Gallwitz, H.; Abicht, A.; Diebold, I.; Holinski‐Feder, E.; Van Maldergem, L.; Lammens, M.; Kovács‐Nagy, R.; Alhaddad, B.; Strom, T.M.; Meitinger, T.; Senderek, J.; Rudnik‐Schöneborn, S.; Haack, T.B.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 2(2018)
Page Start:
255
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗