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1,503 results

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[Wolf-Hirschhorn syndrome. Description of five cases characterized by means of single nucleotide polymorphism microarrays].
Cammarata-Scalisi F, Blanco Lago R, Barruz Galián P, Lapunzina Badía P, Araque D, Da Silva G, Lacruz-Rengel MA, Avendaño A, Nevado Blanco J. Cammarata-Scalisi F, et al. Among authors: da silva g. Arch Argent Pediatr. 2019 Aug 1;117(4):e406-e412. doi: 10.5546/aap.2019.e406. Arch Argent Pediatr. 2019. PMID: 31339285 Free article. Spanish.
[Mosaic trisomy 18. Series of cases].
Cammarata-Scalisi F, Lacruz-Rengel MA, Araque D, Da Silva G, Avendaño A, Callea M, Stock F, Guerrero Y, Aguilar E, Lacruz MJ, Sulbaran J. Cammarata-Scalisi F, et al. Among authors: da silva g. Arch Argent Pediatr. 2017 Jun 1;115(3):e183-e186. doi: 10.5546/aap.2017.e183. Arch Argent Pediatr. 2017. PMID: 28504507 Free article. Spanish.
[Clinical and molecular study of the Noonan syndrome].
Cammarata-Scalisi F, Neri G, Pomponi MG, Mancano G, Da Silva G, Avendaño A, Lacruz-Rengel MA, Stock F, Sosa A. Cammarata-Scalisi F, et al. Among authors: da silva g. Invest Clin. 2012 Dec;53(4):395-401. Invest Clin. 2012. PMID: 23513489 Spanish.
[Clinical and molecular study in a family with cleidocranial dysplasia].
Callea M, Fattori F, Bertini ES, Yavuz I, Bellacchio E, Avendaño A, Araque D, Lacruz-Rengel MA, Da Silva G, Cammarata-Scalisi F. Callea M, et al. Among authors: da silva g. Arch Argent Pediatr. 2017 Dec 1;115(6):e440-e444. doi: 10.5546/aap.2017.e440. Arch Argent Pediatr. 2017. PMID: 29087131 Free article. Spanish.
[Clinical, biochemical and molecular findings of propionic acidemia].
Cammarata-Scalisi F, Yen-Hui C, Tze-Tze L, Da Silva G, Araque D, Callea M, Avendaño A. Cammarata-Scalisi F, et al. Among authors: da silva g. Arch Argent Pediatr. 2019 Jun 1;117(3):e288-e291. doi: 10.5546/aap.2019.e288. Arch Argent Pediatr. 2019. PMID: 31063319 Free article. Spanish.
[Pearson syndrome. Case report].
Cammarata-Scalisi F, López-Gallardo E, Emperador S, Ruiz-Pesini E, Da Silva G, Camacho N, Montoya J. Cammarata-Scalisi F, et al. Among authors: da silva g. Invest Clin. 2011 Sep;52(3):261-7. Invest Clin. 2011. PMID: 21950197 Spanish.
Early severe pachyonychia congenita subtype PC-K6a with a novel mutation in the KRT6A gene.
Cammarata-Scalisi F, Natsuga K, Toyonaga E, Nishie W, Shimizu H, Avendaño A, Araque D, Da Silva G, Bellacchio E, Callea M. Cammarata-Scalisi F, et al. Among authors: da silva g. J Eur Acad Dermatol Venereol. 2017 Feb;31(2):e94-e96. doi: 10.1111/jdv.13800. Epub 2016 Jul 21. J Eur Acad Dermatol Venereol. 2017. PMID: 27445120 No abstract available.
1,503 results