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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Schaefer, M.; Menzel, L.; Friedrich, C. et al.

Progranulin protects against exaggerated axonal injury and astrogliosis following traumatic brain injury in mice

GLIA. Bd. 65. 2017 S. E180-E181


Schweiger, Susann; Matthes, Frank; Posey, Karen et al.

Resveratrol induces dephosphorylation of Tau by interfering with the MID1-PP2A complex

SCIENTIFIC REPORTS. Bd. 7. 2017


Tugcu, D.; Gulec, E. Yilmaz; Akici, F. et al.

A Case of Rubinstein-Taybi Syndrome and Neuroblastoma with Heterozygous EX1 Deletion; Ex4-Ex16 Duplication Crebbp Mutation

PEDIATRIC BLOOD & CANCER. Bd. 63. 2016 S. S204-S204


Brueggemann, Felix B.; Bartsch, Oliver

A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes

CLINICAL DYSMORPHOLOGY. Bd. 25. H. 2. 2016 S. 50-53


Motzek, Antje; Knezevic, Jelena; Switzeny, Olivier J. et al.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency

PLOS ONE. Bd. 11. H. 3. 2016




Schmeh, Isabella; Kidszun, Andre; Lausch, Ekkehart et al.

Chest Radiograph as Diagnostic Clue in a Floppy Infant

JOURNAL OF PEDIATRICS. Bd. 177. 2016 S. 324-+


Vona, Barbara; Lechno, Stanislav; Hofrichter, Michaela A. H. et al.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene

EAR AND HEARING. Bd. 37. H. 4. 2016 S. E238-E246