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Assessing risks of leaving the umbilical cord uncut: A case-control study.
Bedetti L, Zinani I, Lugli L, Iughetti L, Facchinetti F; Working Group; Berardi A. Bedetti L, et al. Among authors: lugli l. Acta Paediatr. 2023 Nov;112(11):2378-2380. doi: 10.1111/apa.16887. Epub 2023 Jun 28. Acta Paediatr. 2023. PMID: 37340574 No abstract available.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Martinelli S, Krumbach OHF, Pantaleoni F, Coppola S, Amin E, Pannone L, Nouri K, Farina L, Dvorsky R, Lepri F, Buchholzer M, Konopatzki R, Walsh L, Payne K, Pierpont ME, Vergano SS, Langley KG, Larsen D, Farwell KD, Tang S, Mroske C, Gallotta I, Di Schiavi E, Della Monica M, Lugli L, Rossi C, Seri M, Cocchi G, Henderson L, Baskin B, Alders M, Mendoza-Londono R, Dupuis L, Nickerson DA, Chong JX; University of Washington Center for Mendelian Genomics; Meeks N, Brown K, Causey T, Cho MT, Demuth S, Digilio MC, Gelb BD, Bamshad MJ, Zenker M, Ahmadian MR, Hennekam RC, Tartaglia M, Mirzaa GM. Martinelli S, et al. Among authors: lugli l. Am J Hum Genet. 2018 Feb 1;102(2):309-320. doi: 10.1016/j.ajhg.2017.12.015. Epub 2018 Jan 25. Am J Hum Genet. 2018. PMID: 29394990 Free PMC article.
Pure segmental trisomy 1q42-qter in a boy with a severe phenotype.
Percesepe A, Lugli L, Pierluigi M, Cavani S, Malacarne M, Roversi MF, Ferrari F, Forabosco A. Percesepe A, et al. Among authors: lugli l. Am J Med Genet A. 2007 Oct 1;143A(19):2339-42. doi: 10.1002/ajmg.a.31890. Am J Med Genet A. 2007. PMID: 17702013 No abstract available.
Galactosialidosis: review and analysis of CTSA gene mutations.
Caciotti A, Catarzi S, Tonin R, Lugli L, Perez CR, Michelakakis H, Mavridou I, Donati MA, Guerrini R, d'Azzo A, Morrone A. Caciotti A, et al. Among authors: lugli l. Orphanet J Rare Dis. 2013 Aug 2;8:114. doi: 10.1186/1750-1172-8-114. Orphanet J Rare Dis. 2013. PMID: 23915561 Free PMC article. Review.
New clinical and molecular insights on Barth syndrome.
Ferri L, Donati MA, Funghini S, Malvagia S, Catarzi S, Lugli L, Ragni L, Bertini E, Vaz FM, Cooper DN, Guerrini R, Morrone A. Ferri L, et al. Among authors: lugli l. Orphanet J Rare Dis. 2013 Feb 14;8:27. doi: 10.1186/1750-1172-8-27. Orphanet J Rare Dis. 2013. PMID: 23409742 Free PMC article.
168 results