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The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|September 11, 2012
Chromosomal microarray (CMA) analysis in infants with congenital anomalies: when is it really helpful?Nicoletta Resta, Luigi Memo
International Journal of Environmental Research and Public Health|May 5, 2021
Clinical Spectrum Associated with Wolfram Syndrome Type 1 and Type 2: A Review on Genotype-Phenotype CorrelationsMaurizio Delvecchio, Matteo Iacoviello, Antonino Pantaleo, et al.
Human Mutation|June 20, 2022
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 geneAlessandro Stella, Patrizia Lastella, Luigi Viggiano, et al.
Cancers|December 24, 2021
Lateralized and Segmental Overgrowth in ChildrenAlessandro Mussa, Diana Carli, Simona Cardaropoli, et al.
BMC Genomics|September 26, 2006
In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effectsPatrizia Lastella, Nicoletta Concetta Surdo, Nicoletta Resta, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 3, 2022
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathwayDiana Carli, Nicoletta Resta, Giovanni Battista Ferrero, et al.
Nature Structural & Molecular Biology|December 21, 2004
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sitesMichelle L Hastings, Nicoletta Resta, Daniel Traum, et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|August 22, 2007
SCE frequency measurement could be useful in the prenatal diagnosis of Roberts syndromeNenad Bukvic, Nicoletta Resta, Dragoslav Bukvic, et al.
Neurosurgery|November 14, 2008
Molecular genetic analysis in a case of ganglioglioma: identification of a new mutationAntonio De Tommasi, Sabino Luzzi, Pietro I D'Urso, et al.
BMC Cancer|February 13, 2016
Parallelism of DOG1 expression with recurrence risk in gastrointestinal stromal tumors bearing KIT or PDGFRA mutationsFrancesca Maria Rizzo, Raffaele Palmirotta, Andrea Marzullo, et al.
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