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Stefan Neuenschwander
Stefan Neuenschwander
University of Zurich
Biology
Genetics
Dominance (genetics)
Consanguinity
Bioinformatics
3
Papers
37
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Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18
2011
European Journal of Human Genetics
Ariana Kariminejad
Roxana Kariminejad
Azadeh Moshtagh
Maryam Zanganeh
Mohammad Hassan Kariminejad
Stefan Neuenschwander
Michal Okoniewski
Eva Wey
Albert Schinzel
Alessandra Baumer
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A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
2010
Journal of The European Academy of Dermatology and Venereology
Elisabeth I. Minder
Xiaoye Schneider-Yin
Rivka Mamet
L. Horev
Stefan Neuenschwander
Alessandra Baumer
Frédéric Austerlitz
Hervé Puy
Nili Schoenfeld
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Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency
2010
European Journal of Human Genetics
Janine Meienberg
Marianne Rohrbach
Stefan Neuenschwander
Katharina Spanaus
Cecilia Giunta
Sira Alonso
Eliane Arnold
Caroline Henggeler
Stephan Regenass
Andrea Patrignani
Silvia Azzarello-Burri
Bernhard Steiner
Anders O. H. Nygren
Thierry Carrel
Beat Steinmann
Gabor Matyas
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Citations (21)
1