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Journal of Neuroendocrinology|October 1, 2021
The psychological impact of COVID-19 pandemic on patients with neuroendocrine tumors: Between resilience and vulnerabilityEleonora Lauricella, Mauro Cives, Alessandra Bracigliano, et al.
Human Molecular Genetics|August 15, 2018
Dissecting KMT2D missense mutations in Kabuki syndrome patientsDario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, et al.
Scientific Reports|September 2, 2016
Identification of p53-target genes in Danio rerioBarbara Mandriani, Stefano Castellana, Carmela Rinaldi, et al.
Biochimica Et Biophysica Acta. Molecular Cell Research|April 1, 2018
TRIM50 regulates Beclin 1 proautophagic activityCarmela Fusco, Barbara Mandriani, Martina Di Rienzo, et al.
BMC Cancer|June 17, 2015
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survivalLucia Micale, Carmela Fusco, Andrea Fontana, et al.
Cell Death Discovery|March 3, 2026
SPINK2 silencing suppresses leukemic proliferation and restores myeloid commitment via MECOM downregulation in acute myeloid leukaemiaAntonio Benedetto Ventura, Tiziana Loconte, Amer Ahmed, et al.
Genome Research|January 7, 2015
BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomaliesGuntram Borck, Friederike Hög, Maria Lisa Dentici, et al.
Medrxiv : the Preprint Server for Health Sciences|January 23, 2024
<i>De novo</i> variants in <i>PLCG1</i> are associated with hearing impairment, ocular pathology, and cardiac defectsMengqi Ma, Yiming Zheng, Shenzhao Lu, et al.
Elife|August 27, 2025
Heterozygous variants in <i>PLCG1</i> affect hearing, vision, cardiac, and immune functionMengqi Ma, Yiming Zheng, Mingxi Deng, et al.
Human Mutation|March 18, 2014
Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patientsLucia Micale, Bartolomeo Augello, Claudia Maffeo, et al.
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