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European Journal of Human Genetics : EJHG|July 25, 2022
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1Viola Alesi, Francesca Romana Lepri, Maria Lisa Dentici, et al.
Molecular and Cellular Probes|September 25, 2002
Two novel mutations of the human delta7-sterol reductase (DHCR7) gene in children with Smith-Lemli-Opitz syndromeC Patrono, C Dionisi-Vici, A Giannotti, et al.
American Journal of Medical Genetics. Part A|April 14, 2017
Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literatureRita Fischetto, Orazio Palumbo, Federica Ortolani, et al.
Orphanet Journal of Rare Diseases|April 21, 2011
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndromeMaria Cristina Roberti, Cecilia Surace, Maria Cristina Digilio, et al.
Cardiology in the Young|October 10, 2008
A standard echocardiographic and tissue Doppler study of morphological and functional findings in children with hypertrophic cardiomyopathy compared to those with left ventricular hypertrophy in the setting of Noonan and LEOPARD syndromesFabiana Cerrato, Giuseppe Pacileo, Giuseppe Limongelli, et al.
Magnetic Resonance in Medicine|October 16, 2010
Iopamidol as a responsive MRI-chemical exchange saturation transfer contrast agent for pH mapping of kidneys: In vivo studies in mice at 7 TDario Livio Longo, Walter Dastrù, Giuseppe Digilio, et al.
Insect Science|May 6, 2017
Trichoderma harzianum enhances tomato indirect defense against aphidsMariangela Coppola, Pasquale Cascone, Maria Luisa Chiusano, et al.
Asian Journal of Andrology|January 18, 2011
CABYR binds to AKAP3 and Ropporin in the human sperm fibrous sheathYan-Feng Li, Wei He, Arabinda Mandal, et al.
Children (Basel, Switzerland)|June 24, 2022
22q11.2 Deletion Syndrome: Impact of Genetics in the Treatment of Conotruncal Heart DefectsCarolina Putotto, Flaminia Pugnaloni, Marta Unolt, et al.
Clinical Genetics|May 4, 2018
Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehogM C Digilio, F Pugnaloni, A De Luca, et al.
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