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Phenotype of five cases of prenatally diagnosed campomelic dysplasia harboring novel mutations of the SOX9 gene.
Gentilin B, Forzano F, Bedeschi MF, Rizzuti T, Faravelli F, Izzi C, Lituania M, Rodriguez-Perez C, Bondioni MP, Savoldi G, Grosso E, Botta G, Viora E, Baffico AM, Lalatta F. Gentilin B, et al. Among authors: bondioni mp. Ultrasound Obstet Gynecol. 2010 Sep;36(3):315-23. doi: 10.1002/uog.7761. Ultrasound Obstet Gynecol. 2010. PMID: 20812307 Free article.
A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy.
Furlan F, Rovelli A, Rigoldi M, Filocamo M, Tappino B, Friday D, Gasperini S, Mariani S, Izzi C, Bondioni MP, Gellera C, Venerando A, Villa N, Del Carmen Rodriguez Perez M, Pavan F, Biondi A, Parini R. Furlan F, et al. Among authors: bondioni mp. Ital J Pediatr. 2018 Nov 16;44(Suppl 2):128. doi: 10.1186/s13052-018-0566-x. Ital J Pediatr. 2018. PMID: 30442200 Free PMC article.
52 results