Author/Creator: Zimprich, A. - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Zimprich, A.

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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2. Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene. (22nd March 2017)

Authors:: Krenn, M.; Zulehner, G.; Hotzy, C.; Rath, J.; Stogmann, E.; Wagner, M.; Haack, T. B.; Strom, T. M.; Zimprich, A.; Zimprich, F.
Journal:: European journal of neurology
Issue:: Volume 24:Number 5(2017:May)
Page Start:: 741
Record Type:: Journal Article
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3. The c.65‐2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA. Issue 4 (3rd February 2016)

Authors:: Cetin, H.; Wöhrer, A.; Rittelmeyer, I.; Gencik, M.; Zulehner, G.; Zimprich, F.; Ströbel, T.; Zimprich, A.
Journal:: Clinical genetics
Issue:: Volume 90:Issue 4(2016)
Page Start:: 366
Record Type:: Journal Article
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