Weissbach, Stephan; Milkovits, Jonas; Pastore, Stefan et al.
Cortexa: a comprehensive resource for studying gene expression and alternative splicing in the murine brainBMC 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 spasticityBRAIN. 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 statementJOURNAL 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 resilienceEUROPEAN 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 studyEUROPEAN 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 literatureCLINICAL 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 adulthoodISCIENCE. Bd. 27. H. 7. 2024
Pfenninger, Markus; Reuss, Friederike; KIebler, Angelika et al.
Genomic basis for drought resistance in European beech forests threatened by climate change (vol 10, e65532, 2021)ELIFE. Bd. 13. 2024
Soliman, Azza; Leismann, Jessica; Hartwich, Dewi et al.
Human models for White Sutton syndrome: <i>POGZ</i> mutations change the transcriptome and induce defects in neural progenitor cell biologyEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 1468-1468
Soliman, Azza; Leismann, Jessica; Hartwich, Dewi et al.
Human models for White Sutton syndrome: <i>POGZ</i> mutations change the transcriptome and induce defects in neural progenitor cell biologyEUROPEAN JOURNAL OF HUMAN GENETICS. Bd. 32. 2024 S. 1468-1468