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Anja von Renesse
Anja von Renesse
Charité
Missense mutation
Exome sequencing
Biology
Endocrinology
Alkaline phosphatase
2
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48
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A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels
2017
Metabolic Brain Disease
Yoav Zehavi
Anja von Renesse
Etty Daniel-Spiegel
Yonatan Sapir
Luci Zalman
Ilana Chervinsky
Markus Schuelke
Rachel Straussberg
Ronen Spiegel
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Citations (7)
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
2014
Journal of Medical Genetics
Anja von Renesse
Mina V. Petkova
Susanne Lützkendorf
Jan Heinemeyer
Esther Gill
Christoph Hübner
Arpad von Moers
Werner Stenzel
Markus Schuelke
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Citations (41)
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