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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Pfeiffer, Annika; Jaeckel, Martin; Lewerenz, Jan et al.

Mitochondrial function and energy metabolism in neuronal HT22 cells resistant to oxidative stress

BRITISH JOURNAL OF PHARMACOLOGY. Bd. 171. H. 8. 2014 S. 2147-2158


Reuter, Miriam S.; Musante, Luciana; Hu, Hao et al.

NDST1 Missense Mutations in Autosomal Recessive Intellectual Disability

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 164A. H. 11. 2014 S. 2753-2763


Rost, Simone; Bach, Elisa; Neuner, Cordula et al.

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 22. H. 2. 2014 S. 208-215


Aslan, Deniz; Akata, Rustu Fikret; Schroeder, Julia et al.

Oculoectodermal Syndrome: Report of a New Case With a Broad Clinical Spectrum

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 164A. H. 11. 2014 S. 2947-2951


Bickmann, Julia K.; Sollfrank, Stefanie; Schad, Arno et al.

Phenotypic Variability and Risk of Malignancy in SDHC-Linked Paragangliomas: Lessons From Three Unrelated Cases With an Identical Germline Mutation (p.Arg133*)

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM. Bd. 99. H. 3. 2014 S. E489-E496


Siuda, D.; Wu, Z.; Chen, Y. et al.

SOCIAL ISOLATION-INDUCED EPIGENETIC CHANGES IN MIDBRAIN OF ADULT MICE

JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY. Bd. 65. H. 2. 2014 S. 247-255


Vona, Barbara; Mueller, Tobias; Nanda, Indrajit et al.

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations

GENETICS IN MEDICINE. Bd. 16. H. 12. 2014 S. 945-953


Schweiger, Susann; Dorn, Stephanie; Fuchs, Melanie et al.

The E3 Ubiquitin Ligase MID1 Catalyzes Ubiquitination and Cleavage of Fu

JOURNAL OF BIOLOGICAL CHEMISTRY. Bd. 289. H. 46. 2014 S. 31805-31817


Braeutigam, C.; Rago, L.; Rolke, A. et al.

The RNA-binding protein Rbfox2: an essential regulator of EMT-driven alternative splicing and a mediator of cellular invasion

ONCOGENE. Bd. 33. H. 9. 2014 S. 1082-1092


Schroeder, Julia C.; Laessig, Anne K.; Galetzka, Danuta et al.

A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

BEHAVIORAL AND BRAIN FUNCTIONS. Bd. 9. 2013