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Published in The Lancet (British edition) (02.12.2000)
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20 novel point mutations and one large deletion in EXT1 and EXT2 genes: Report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis
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Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
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Differences and homologies of chromosomal alterations within and between breast cancer cell lines: a clustering analysis
Rondón-Lagos, Milena, Verdun Di Cantogno, Ludovica, Marchiò, Caterina, Rangel, Nelson, Payan-Gomez, Cesar, Gugliotta, Patrizia, Botta, Cristina, Bussolati, Gianni, Ramírez-Clavijo, Sandra R, Pasini, Barbara, Sapino, Anna
Published in Molecular cytogenetics (23.01.2014)
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Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
Bayley, Jean-Pierre, van Minderhout, Ivonne, Weiss, Marjan M, Jansen, Jeroen C, Oomen, Peter H N, Menko, Fred H, Pasini, Barbara, Ferrando, Barbara, Wong, Nora, Alpert, Lesley C, Williams, Rosie, Blair, Edward, Devilee, Peter, Taschner, Peter E M
Published in BMC medical genetics (11.01.2006)
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Clinical genetic testing for familial melanoma in Italy: A cooperative study
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BRCA1/2 Molecular Assay for Ovarian Cancer Patients: A Survey through Italian Departments of Oncology and Molecular and Genomic Diagnostic Laboratories
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Published in Diagnostics (Basel) (09.10.2019)
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Atypical epithelial proliferation in fallopian tubes in prophylactic salpingo-oophorectomy specimens from BRCA1 and BRCA2 germline mutation carriers
Carcangiu, Maria L, Radice, Paolo, Manoukian, Siranoush, Spatti, Gianbattista, Gobbo, Morena, Pensotti, Valeria, Crucianelli, Rosella, Pasini, Barbara
Published in International journal of gynecological pathology (01.01.2004)
Published in International journal of gynecological pathology (01.01.2004)
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Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
Romeo, Giovanni, Ronchetto, Patrizia, Luo, Yin, Barone, Virginia, Seri, Marco, Ceccherini, Isabella, Pasini, Barbara, Bocciardi, Renata, Lerone, Margherita, Kääriäinen, Helena, Martucciello, Giuseppe
Published in Nature (London) (27.01.1994)
Published in Nature (London) (27.01.1994)
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