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Institut für Medizinische Molekulargenetik

Publications 2015

  • Da Costa R, Glaus E, Tiwari A, Kloeckener-Gruissem B, Berger W, Neidhardt J (2015) Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations. Gene Ther 22:413-420
  • Gerth-Kahlert C, Seebauer B, Dold S, Hanson JVM, Wildberger H, Spörri A, van Waes H, Berger W (2015) Intra-familial phenotype variability in patients with Jalili syndrome. Eye 29:712-716
  • Thijssen PE, Ito Y, Grillo G, Wang J, Velasco G, Nitta H, Unoki M, Yoshihara M, Suyama M, Sun Y, Lemmers RJLF, deGreef JC, Gennery A, Picco P, Kloeckener-Gruissem B, Güngör T, Reisli I, Picard C, Kebaili K, Roquelaure B, Iwai T, Kondo I, Kubota T, van Ostaijen-Ten Dam MM, van Tol MJD, Weemaes C, Francastel C, van der Maarel SM and Sasaki H (2015) Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nat Commun 6:7870, PMID: 26216346

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