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The Plant Journal : for Cell and Molecular Biology|February 13, 2008
Identification of a novel cis-regulatory element for UV-B-induced transcription in ArabidopsisJudit Safrany, Veronika Haasz, Zoltan Mate, et al.Clinical Genetics|January 27, 2019
Expanding the clinical spectrum associated with PACS2 mutationsMaria L Dentici, Sabina Barresi, Marcello Niceta, et al.Journal of Medical Genetics|May 21, 2013
Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndromeElisabetta Flex, Andrea Ciolfi, Viviana Caputo, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|February 3, 2023
Natural history of MRAS-related Noonan syndrome: Evidence of mild adult-onset left ventricular hypertrophy and neuropsychiatric featuresManuela Priolo, Cecilia Mancini, Francesca Clementina Radio, et al.Frontiers in Genetics|May 23, 2019
Role of DNA Methylation Profile in Diagnosing Astroblastoma: A Case Report and Literature ReviewGiuseppe Petruzzellis, Iside Alessi, Giovanna Stefania Colafati, et al.European Journal of Medical Genetics|September 7, 2018
TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerationsMarcello Niceta, Sabina Barresi, Francesca Pantaleoni, et al.Clinical Genetics|January 27, 2023
DNA methylation signature classification of rare disorders using publicly available methylation dataMathis Hildonen, Marco Ferilli, Tina Duelund Hjortshøj, et al.Journal of Neurology|February 27, 2014
Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutationsCarola Hedberg, Marcello Niceta, Fabiana Fattori, et al.Epilepsy & Behavior : E&B|May 14, 2020
Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic conditionMarina Trivisano, Manuel Rivera, Alessandra Terracciano, et al.Pathology, Research and Practice|July 30, 2021
DICER1-associated malignancies mimicking germ cell neoplasms: Report of two cases and review of the literatureSabrina Rossi, Sabina Barresi, Alessandra Stracuzzi, et al.Pageof 12