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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Ding, Can; Beetz, Rolf; Rittner, Gabriele et al.

A female with X-linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2020


Haeuser, Friederike; Goekce, Seyfullah; Werner, Gesa et al.

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition

MOLECULAR GENETICS AND METABOLISM. Bd. 130. H. 1. 2020 S. 27-35


Domingo-Rodriguez, Laura; Ruiz de Azua, Inigo; Dominguez, Eduardo et al.

A specific prelimbic-nucleus accumbens pathway controls resilience versus vulnerability to food addiction

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



Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. Bd. 146. H. 4. 2020 S. 901-911


Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils et al.

Characterization of the Clinical and Immunological Phenotype and Management of 157 Individuals with 56 Distinct Heterozygous NFKB1 Mutations

JOURNAL OF CLINICAL IMMUNOLOGY. Bd. 40. H. SUPPL 1. 2020 S. S57-S59


Ruffini, Nicolas; Klingenberg, Susanne; Schweiger, Susann et al.

Common Factors in Neurodegeneration: A Meta-Study Revealing Shared Patterns on a Multi-Omics Scale

CELLS. Bd. 9. H. 12. 2020



Beheshtian, Maryam; Akhtarkhavari, Tara; Mehvari, Sepideh et al.

Comprehensivegenotype-phenotypecorrelation inAP-4 deficiency syndrome; Adding data from a large cohort of Iranian patients

CLINICAL GENETICS. 2020


Wendelmuth, M.; Wiliam, M.; Todorov, H. et al.

Dynamic longitudinal behavior in animals exposed to chronic social defeat stress

PLOS ONE. Bd. 15. H. 7. 2020