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Stefanie Wieser
Stefanie Wieser
Biology
Genetics
Phenotype
Internal medicine
DNA sequencing
3
Papers
44
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ADAMTSL4‐associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description
2015
American Journal of Medical Genetics Part A
Teresa Neuhann
Annette Stegerer
Angelika Riess
Edward Blair
Thomas Martin
Stefanie Wieser
Rüdiger Kläs
Arjan Bouman
Alma Kuechler
Olaf Rittinger
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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations
2015
Journal of Inherited Metabolic Disease
James Pitt
Heidi Peters
Avihu Boneh
Joy Yaplito-Lee
Stefanie Wieser
Katrin Hinderhofer
David Johnson
Johannes Zschocke
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Citations (26)
Genotype-based databases for variants causing rare diseases
2014
Gene
Barbara Lanthaler
Stefanie Wieser
Andrea J. Deutschmann
Anna Schossig
Christine Fauth
Johannes Zschocke
Martina Witsch-Baumgartner
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Citations (9)
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