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Helena Böhrer-Rabel
Helena Böhrer-Rabel
Genetics
Biology
Mutation
Joubert syndrome
Bioinformatics
2
Papers
31
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Smith–Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism
2017
American Journal of Medical Genetics Part A
Shahida Moosa
Helena Böhrer-Rabel
Janine Altmüller
Filippo Beleggia
Peter Nürnberg
Yun Li
Gökhan Yigit
Bernd Wollnik
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Citations (10)
Tectonic gene mutations in patients with Joubert syndrome
2015
European Journal of Human Genetics
Peter Huppke
Eike Wegener
Helena Böhrer-Rabel
Hanno J. Bolz
Barbara Zoll
Jutta Gärtner
Carsten Bergmann
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Citations (21)
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