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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Stroh, Albrecht; Schweiger, Susann; Ramirez, Jan-Marino et al.

The sel fi sh network: how the brain preserves behavioral function through shifts in neuronal network state

TRENDS IN NEUROSCIENCES. Bd. 47. H. 4. 2024 S. 246-258


Licht, Philipp; Dominelli, Nazzareno; Kleemann, Johannes et al.

The skin microbiome stratifies patients with cutaneous T cell lymphoma and determines event-free survival

NPJ BIOFILMS AND MICROBIOMES. Bd. 10. H. 1. 2024


Krummeich, Jennifer; Engelhardt, Verena; Caliendo, Cosima et al.

Trajectory of neuroligin/neurexin dysregulation associates with the establishment of an ASD-like phenotype in a mouse model of tuberous sclerosis

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 1471-1472


Ruffini, Nicolas; Altahini, Saleh; Weissbach, Stephan et al.

ViNe-Seg: deep-learning-assisted segmentation of visible neurons and subsequent analysis embedded in a graphical user interface

BIOINFORMATICS. Bd. 40. H. 4. 2024


Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie et al.

Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 740-742


Yao, Siyue; Zhou, Xi; Gu, Min et al.

<i>FGFR1</i> variants contributed to families with tooth agenesis

HUMAN GENOMICS. Bd. 17. H. 1. 2023


Hassunah, Pia; Thoma, Katharina; Camacho-Ordonez, Nadezhda et al.

Assessment of disease activity and management of patients with NFkB1 insufficiency

CLINICAL IMMUNOLOGY. Bd. 250. 2023 S. 34-34


Abdel-Salam, Ghada M. H.; Hellmuth, Susanne; Gradhand, Elise et al.

Biallelic<i> MAD2L1BP</i> (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

JCI INSIGHT. Bd. 8. H. 22. 2023


Nuzhat, Nafisa; Van Schil, Kristof; Liakopoulos, Sandra et al.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

JOURNAL OF CLINICAL INVESTIGATION. Bd. 133. H. 8. 2023


Holthoefer, Laura; Selig, Mareike; Engelhardt, Verena et al.

Deciphering MALSU1 in a consanguineous family with mitochondrial cardiomyopathy

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 31. 2023 S. 156-156