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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Cooper, Alexis; Butto, Tamer; Hammer, Niklas et al.

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

NATURE COMMUNICATIONS. Bd. 11. H. 1. 2020


Fischer, Caroline; Endle, Heiko; Schumann, Lana et al.

Prevention of age-associated neuronal hyperexcitability with improved learning and attention upon knockout or antagonism of LPAR2

CELLULAR AND MOLECULAR LIFE SCIENCES. 2020


Casanovas, Sonia; Schlichtholz, Laura; Muehlbauer, Sophia et al.

Rbfox1 Is Expressed in the Mouse Brain in the Form of Multiple Transcript Variants and Contains Functional E Boxes in Its Alternative Promoters

FRONTIERS IN MOLECULAR NEUROSCIENCE. Bd. 13. 2020


Suter, Aude-Annick; Santos-Simarro, Fernando; Toerring, Pernille Mathiesen et al.

Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. Bd. 182. H. 9. 2020 S. 2068-2076


Mehvari, Sepideh; Larti, Farzaneh; Hu, Hao et al.

Whole genome sequencing identifies a duplicated region encompassing Xq13.2q13.3 in a large Iranian family with intellectual disability

MOLECULAR GENETICS & GENOMIC MEDICINE. Bd. 8. H. 10. 2020


Michels, Sebastian; Buchholz, Hans-Georg; Rosar, Florian et al.

18F-FDG PET/CT: an unexpected case of Huntington's disease

BMC NEUROLOGY. Bd. 19. 2019


Kress, Wolfram; Bartsch, Oliver

Honorary Doctorate awarded to Prof. Dr. Eberhard Passarge

MEDIZINISCHE GENETIK. Bd. 31. H. 3. 2019 S. 351-351


Arlt, A.; Kaeseberg, S.; Linke, M. et al.

Intrafamilial variability of neuropsychiatric symptoms associated with the microduplication of chromosome 16p11.2

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 27. 2019 S. 268-268


Hadzsiev, Kinga; Gyorsok, Zsuzsanna; Till, Agnes et al.

Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect

CLINICAL DYSMORPHOLOGY. Bd. 28. H. 3. 2019 S. 135-139


Arash-Kaps, Laila; Komlosi, Katalin; Seegraeber, Marlene et al.

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

JOURNAL OF PEDIATRICS. Bd. 215. 2019 S. 152-+