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Journal of Medical Genetics|December 1, 1994
Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisationM Gomez-Lira, A Sangalli, P F Pignatti, et al.
Organic & Biomolecular Chemistry|July 9, 2024
Synthesis of fluorinated curcumin derivatives for detecting amyloid plaques by <sup>19</sup>F-MRISebastiano Micocci, Rachele Stefania, Francesca Garello, et al.
Genes|July 27, 2022
Differences and Similarities in Adaptive Functioning between Children with Autism Spectrum Disorder and Williams-Beuren Syndrome: A Longitudinal StudyPaolo Alfieri, Francesco Scibelli, Federica Alice Maria Montanaro, et al.
American Journal of Human Genetics|June 12, 2002
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 geneMaria Cristina Digilio, Emanuela Conti, Anna Sarkozy, et al.
Neurochemistry International|May 29, 2000
Nuclear magnetic relaxation dispersion profiles of substantia nigra pars compacta in Parkinson's disease patients are consistent with protein aggregationL Lopiano, M Fasano, S Giraudo, et al.
Journal of Craniofacial Genetics and Developmental Biology|April 1, 1996
The search for hemizygosity at 22qll in patients with isolated cleft palateR Mingarelli, M C Digilio, A Mari, et al.
The Journal of Pediatrics|December 26, 2006
Thyroid morphology and subclinical hypothyroidism in children and adolescents with Williams syndromePaola Cambiaso, Cinzia Orazi, Maria Cristina Digilio, et al.
Clinical Genetics|June 18, 2004
High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphismA Novelli, C Ceccarini, L Bernardini, et al.
Early Intervention in Psychiatry|October 28, 2014
Indicated prevention with long-chain polyunsaturated omega-3 fatty acids in patients with 22q11DS genetically at high risk for psychosis. Protocol of a randomized, double-blind, placebo-controlled treatment trialMarco Armando, Franco De Crescenzo, Stefano Vicari, et al.
European Journal of Medical Genetics|July 27, 2018
Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1Schaida Schirwani, Antonio Novelli, Maria Cristina Digilio, et al.
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