Starten Sie Ihre Suche...


Durch die Nutzung unserer Webseite erklären Sie sich damit einverstanden, dass wir Cookies verwenden. Weitere Informationen

Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Winter, Jennifer; Basilicata, M. Felicia; Stemmler, Marc P. et al.

The MID1 protein is a central player during development and in disease

FRONTIERS IN BIOSCIENCE-LANDMARK. Bd. 21. 2016 S. 664-682


Keilmann, Annerose; Laessig, Anne K.; Pollak-Hainz, Anja et al.

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations

INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY. Bd. 79. H. 2. 2015 S. 115-118


Laessig, A. K.; Bartsch, O.; Zechner, U. et al.

Congenital Sensorineural Deafness with Microtia and Michel-Aplasia

LARYNGO-RHINO-OTOLOGIE. Bd. 94. H. 3. 2015 S. 182-183


Xu, Xingbo; Smorag, Lukasz; Nakamura, Toshinobu et al.

Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprinting

NATURE COMMUNICATIONS. Bd. 6. 2015


Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B. et al.

Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry disease

PLoS one. Bd. 10. H. 9. Lawrence, Kan.: PLoS 2015 e0137603


Beck, Michael

Enzyme replacement and gene therapy for mucopolysaccharidoses: current progress and future directions

EXPERT OPINION ON ORPHAN DRUGS. Bd. 3. H. 4. 2015 S. 433-444



Bagheri-Fam, Stefan; Ono, Makoto; Li, Li et al.

FGFR2 mutation in 46, XY sex reversal with craniosynostosis

HUMAN MOLECULAR GENETICS. Bd. 24. H. 23. 2015 S. 6699-6710


Etzold, Anna; Schroeder, Julia C.; Bartsch, Oliver et al.

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome

FAMILIAL CANCER. Bd. 14. H. 1. 2015 S. 161-165


Umlauf, Volker N.; Coerdt, Wiltrud; Leuschner, Ivo et al.

How to Name Papillary Tumors of the Bladder in Children: Transitional Cell Carcinoma or Papillary Urothelial Neoplasm of Low Malignant Potential?

UROLOGY. Bd. 86. H. 2. 2015 S. 379-383