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Page 1
Prenatal Clinical Findings in RASA1-Related Capillary Malformation-Arteriovenous Malformation Syndrome.
Genes (Basel). 2023 Feb 22;14(3):549. doi: 10.3390/genes14030549.
Genes (Basel). 2023.
PMID: 36980822
Free PMC article.
Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.
Peluso F, Caraffi SG, Zuntini R, Trimarchi G, Ivanovski I, Valeri L, Barbieri V, Marinelli M, Pancaldi A, Melli N, Cesario C, Agolini E, Cellini E, Radio FC, Crisafi A, Napoli M, Guerrini R, Tartaglia M, Novelli A, Gargano G, Zuffardi O, Garavelli L.
Peluso F, et al. Among authors: melli n.
Genes (Basel). 2021 Jun 24;12(7):962. doi: 10.3390/genes12070962.
Genes (Basel). 2021.
PMID: 34202629
Free PMC article.
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Multiple sulfatase deficiency with neonatal manifestation.
Garavelli L, Santoro L, Iori A, Gargano G, Braibanti S, Pedori S, Melli N, Frattini D, Zampini L, Galeazzi T, Padella L, Pepe S, Wischmeijer A, Rosato S, Ivanovski I, Iughetti L, Gelmini C, Bernasconi S, Superti-Furga A, Ballabio A, Gabrielli O.
Garavelli L, et al. Among authors: melli n.
Ital J Pediatr. 2014 Dec 17;40:86. doi: 10.1186/s13052-014-0086-2.
Ital J Pediatr. 2014.
PMID: 25516103
Free PMC article.
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Simpson-Golabi-Behmel syndrome type 1 in a 27-week macrosomic preterm newborn: the diagnostic value of rib malformations and index nail and finger hypoplasia.
Garavelli L, Gargano G, Simonte G, Rosato S, Wischmeijer A, Melli N, Braibanti S, Gelmini C, Forzano F, Pietrobono R, Pomponi MG, Andreucci E, Toutain A, Superti-Furga A, Neri G.
Garavelli L, et al. Among authors: melli n.
Am J Med Genet A. 2012 Sep;158A(9):2245-9. doi: 10.1002/ajmg.a.35474. Epub 2012 Jul 17.
Am J Med Genet A. 2012.
PMID: 22807161
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