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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  25

Sturm, Julia; Milera, Heiko; Essmann, Stephanie et al.

A single center experience in 90 cases with nonimmune hydrops fetalis: diagnostic categories - mostly aneuploidy and still often idiopathic

JOURNAL OF PERINATAL MEDICINE. Bd. 50. H. 7. 2022 S. 985-992


Aghayeva, Fidan A.; Schuster, Alexander K.; Diel, Heidi et al.

Childhood glaucoma registry in Germany: initial database, clinical care and research (pilot study)

BMC RESEARCH NOTES. Bd. 15. H. 1. 2022


Stingl, Julia V.; Diederich, Stefan; Diel, Heidi et al.

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association

JOURNAL OF CLINICAL MEDICINE. Bd. 11. H. 1. 2022


Gerber, Celine B.; Fliedner, Anna; Bartsch, Oliver et al.

Further characterization of Borjeson-Forssman-Lehmann syndrome in females due to de novo variants in PHF6

CLINICAL GENETICS. 2022


Horenko, Illia; Pospisil, Lukas; Vecchi, Edoardo et al.

Low-Cost Probabilistic 3D Denoising with Applications for Ultra-Low-Radiation Computed Tomography

JOURNAL OF IMAGING. Bd. 8. H. 6. 2022


Galetzka, Danuta; Boeck, Julia; Wagner, Lukas et al.

p HYPERMETHYLATION OF RAD9A INTRON 2 IN CHILDHOOD CANCER PATIENTS, LEUKEMIA AND TUMOR CELL LINES SUGGEST A ROLE FOR ONCOGENIC TRANSFORMATION

EXCLI JOURNAL. Bd. 21. 2022 S. 117-143


Doria, Halina Binde; Caliendo, Cosima; Gerber, Susanne et al.

Photoperiod is an important seasonal selection factor in Chironomus riparius (Diptera: Chironomidae)

BIOLOGICAL JOURNAL OF THE LINNEAN SOCIETY. Bd. 135. H. 2. 2022 S. 277-290


Guilherme, Malena dos Santos; Valeri, Francesco; Winter, Jennifer et al.

Resilience and the Gut Microbiome: Insights from Chronically Socially Stressed Wild-Type Mice

MICROORGANISMS. Bd. 10. H. 6. 2022


Guilherme, Malena Dos Santos; Tsoutsouli, Theodora; Chongtham, Monika Chanu et al.

Selective targeting of chronic social stress-induced activated neurons identifies neurogenesis-related genes to be associated with resilience in female mice

PSYCHONEUROENDOCRINOLOGY. Bd. 139. 2022


Douzgou, Sofia; Dell'Oro, Janet; Fonseca, Cristina Rodriguez et al.

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 30. H. 7. 2022 S. 841-847


Rodrigues, Davi Rohe; Everschor-Sitte, Karin; Gerber, Susanne et al.

A deeper look into natural sciences with physics-based and data-driven measures

ISCIENCE. Bd. 24. H. 3. 2021


Frommherz, L.; Komlosi, K.; Dewenter, M. et al.

Amino Acid Substitution in the C-terminus of Keratin 2 causes dominant acral Ichthyosis

JOURNAL DER DEUTSCHEN DERMATOLOGISCHEN GESELLSCHAFT. Bd. 19. 2021 S. 7-7


Pascual Cuadrado, Diego; Wierczeiko, Anna; Hewel, Charlotte et al.

Dichotomic Hippocampal Transcriptome After Glutamatergic vs. GABAergic Deletion of the Cannabinoid CB1 Receptor

FRONTIERS IN SYNAPTIC NEUROSCIENCE. Bd. 13. 2021



Treccani, G.; Yigit, H.; Lingner, T. et al.

Early life stress targets the transcriptional signature and functional properties of voltage gated-sodium (nav) channels in hippocampal NG2+GLIA

EUROPEAN NEUROPSYCHOPHARMACOLOGY. Bd. 53. 2021 S. S136-S137


Diel, Heidi; Ding, Can; Grehn, Franz et al.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review

BMC OPHTHALMOLOGY. Bd. 21. H. 1. 2021


Diel, Heidi; Ding, Can; Grehn, Franz et al.

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review (vol 21, 28, 2021)

BMC OPHTHALMOLOGY. Bd. 21. H. 1. 2021 S. 0-0


Pfenninger, Markus; Reuss, Friederike; Kiebler, Angelika et al.

Genomic basis for drought resistance in European beech forests threatened by climate change

ELIFE. Bd. 10. 2021


Chongtham, Monika Chanu; Butto, Tamer; Mungikar, Kanak et al.

INTACT vs. FANS for Cell-Type-Specific Nuclei Sorting: A Comprehensive Qualitative and Quantitative Comparison

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 10. 2021


Ruffini, Nicolas; Mueller, Marianne; Schmitt, Ulrich et al.

IntelliPy: a GUI for analyzing IntelliCage data

BIOINFORMATICS. Bd. 37. H. 21. 2021 S. 3972-3973


Mueller-Calleja, Nadine; Hollerbach, Anne; Royce, Jennifer et al.

Lipid presentation by the protein C receptor links coagulation with autoimmunity

SCIENCE. Bd. 371. H. 6534. 2021 S. 1121-+


Gerber, Susanne

Low-cost scalable discretization, prediction and feature selection for complex systems

Science Advances. Bd. Vol. 6. 2021 S. 5


Schuele, Martin; Butto, Tamer; Dewi, Sri et al.

mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. Bd. 22. H. 11. 2021


Guilherme, Malena dos Santos; Tsoutsouli, Theodora; Todorov, Hristo et al.

N-6 -Methyladenosine Modification in Chronic Stress Response Due to Social Hierarchy Positioning of Mice

FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY. Bd. 9. 2021


Olahova, Monika; Peter, Bradley; Szilagyi, Zsolt et al.

POLRMT mutations impair mitochondrial transcription causing neurological disease

NATURE COMMUNICATIONS. Bd. 12. H. 1. 2021