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Institut für Humangenetik

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Ruffini, Nicolas; Gerber, Susanne

COMET: A comprehensive Python module for community detection in biological networks

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 1655-1656


Krey, Ilona; Ahting, Simone; Forstner, Andreas et al.

Conference Report GfH Junior Academy 2024

MEDIZINISCHE GENETIK. Bd. 36. H. 4. 2024 S. 277-280


Wilmanns, Christoph; Zechner, Ulrich; Walter, Paul Karl et al.

Correction: Impact of the Reflux Origin on the Clinical Stage and Surgical Decision in Primary Varicose Veins ( Mar, 10.1055/a-2251-1628, 2024)

ZENTRALBLATT FUR CHIRURGIE. Bd. 149. H. 03. 2024 S. e2-e2


Weissbach, Stephan; Milkovits, Jonas; Pastore, Stefan et al.

Cortexa: a comprehensive resource for studying gene expression and alternative splicing in the murine brain

BMC BIOINFORMATICS. Bd. 25. H. 1. 2024


Benkirane, Mehdi; Bonhomme, Marion; Morsy, Heba et al.

De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity

BRAIN. Bd. 147. H. 11. 2024 S. 3681-3689


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

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

JOURNAL OF MEDICAL GENETICS. Bd. 61. H. 6. 2024 S. 503-519


Bertin, Marco; Todorov, Hristo; Kaeseberg, Stephan et al.

Dynamic X-chromosomal reactivation enhances female brain resilience

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 1514-1515


Mulahasanovic, Lejla; Froehlich, Christine; Hellmeister, Susanna et al.

Expanding the mutational spectrum of the MPL gene: identification of two novel loss-of-function variants in a fetus with CAMT - Case study

EUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 365-365


Rad, Aboulfazl; Bartsch, Oliver; Bakhtiari, Somayeh et al.

Expanding the spectrum of phenotypes for <i>MPDZ</i>: Report of four unrelated families and review of the literature

CLINICAL GENETICS. Bd. 106. H. 4. 2024 S. 413-426


Choi, Min-Kyeung; Cook, Alexander; Mungikar, Kanak et al.

Exposure to elevated glucocorticoid during development primes altered transcriptional responses to acute stress in adulthood

ISCIENCE. Bd. 27. H. 7. 2024