Výsledky vyhledávání - Susanne Theiß
- Zobrazuji výsledky 1 - 4 z 4
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Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators Autor Miriam Stampfer, Susanne Theiß, Yasmina Amraoui, Xuntian Jiang, Sigrid Keller, Daniel S. Ory, Eugen Mengel, Christine Fischer, Heiko Runz
Vydáno 2013Artigo -
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Reduction of TMEM97 increases NPC1 protein levels and restores cholesterol trafficking in Niemann-pick type C1 disease cells Autor Darius Ebrahimi‐Fakhari, Lara Wahlster, Fabian Bartz, Jennifer Werenbeck-Ueding, Maria Praggastis, Jessie Zhang, Brigitte Joggerst-Thomalla, Susanne Theiß, Dirk Grimm, Daniel S. Ory, Heiko Runz
Vydáno 2016Artigo -
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Systematic Cell-Based Phenotyping of Missense Alleles Empowers Rare Variant Association Studies: A Case for LDLR and Myocardial Infarction Autor Aenne S. Thormaehlen, Christian Schuberth, Hong‐Hee Won, Peter Blattmann, Brigitte Joggerst-Thomalla, Susanne Theiß, Rosanna Asselta, Stefano Duga, Pier Angelica Merlini, Diego Ardissino, Eric S. Lander, Stacey Gabriel, Daniel J. Rader, Gina M. Peloso, Rainer Pepperkok, Sekar Kathiresan, Heiko Runz
Vydáno 2015Artigo
Vyhledávací nástroje:
Související témata
Biology
Cholesterol
Gene
Biochemistry
Cell
Disease
Endocrinology
Endosome
Internal medicine
Medicine
Mutation
NPC1
Niemann–Pick disease
Niemann–Pick disease, type C
ABCA1
Allele
Ataxia
Cell biology
Cohort
Downregulation and upregulation
Endoplasmic reticulum
Environmental health
Exome
Exome sequencing
Gene knockdown
Genetics
LDL receptor
Lipoprotein
Missense mutation
Pediatrics