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253 results

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Page 1
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L, Bianchi P, Sturiale L, Garozzo D, Mangili G, Keldermans L, Rizzo R, Matthijs G, Fiumara A, Jaeken J, Barone R. Cirnigliaro L, et al. Among authors: mangili g. Birth Defects Res. 2022 Mar;114(5-6):165-174. doi: 10.1002/bdr2.1981. Epub 2022 Jan 23. Birth Defects Res. 2022. PMID: 35068072 Free PMC article.
Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
Pezzani L, Pezzoli L, Pansa A, Facchinetti B, Marchetti D, Scatigno A, Lincesso AR, Perego L, Pingue M, Pellicioli I, Migliazza L, Mangili G, Galletti L, Giussani U, Bonanomi E, Cereda A, Iascone M. Pezzani L, et al. Among authors: mangili g. Mol Genet Genomic Med. 2020 Mar;8(3):e1064. doi: 10.1002/mgg3.1064. Epub 2020 Jan 14. Mol Genet Genomic Med. 2020. PMID: 31943948 Free PMC article.
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli L, Pezzani L, Bonanomi E, Marrone C, Scatigno A, Cereda A, Bedeschi MF, Selicorni A, Gasperini S, Bini P, Maitz S, Maccioni C, Pedron C, Colombo L, Marchetti D, Bellini M, Lincesso AR, Perego L, Pingue M, Della Malva N, Mangili G, Ferrazzi P, Iascone M. Pezzoli L, et al. Among authors: mangili g. J Cardiovasc Dev Dis. 2021 Dec 21;9(1):2. doi: 10.3390/jcdd9010002. J Cardiovasc Dev Dis. 2021. PMID: 35050212 Free PMC article.
[Congenital toxoplasmosis].
Tempra AM, Raglio A, Mangili G, Teani M, Colombo A. Tempra AM, et al. Among authors: mangili g. Pediatr Med Chir. 2003 May-Jun;25(3):215-8. Pediatr Med Chir. 2003. PMID: 14601243 Review. Italian. No abstract available.
Evaluation of Rooming-in Practice for Neonates Born to Mothers With Severe Acute Respiratory Syndrome Coronavirus 2 Infection in Italy.
Ronchi A, Pietrasanta C, Zavattoni M, Saruggia M, Schena F, Sinelli MT, Agosti M, Tzialla C, Varsalone FF, Testa L, Ballerini C, Ferrari S, Mangili G, Ventura ML, Perniciaro S, Spada E, Lunghi G, Piralla A, Baldanti F, Mosca F, Pugni L. Ronchi A, et al. Among authors: mangili g. JAMA Pediatr. 2021 Mar 1;175(3):260-266. doi: 10.1001/jamapediatrics.2020.5086. JAMA Pediatr. 2021. PMID: 33284345 Free PMC article.
Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.
Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Chen R, et al. Among authors: mangili g. J Allergy Clin Immunol. 2013 Sep;132(3):656-664.e17. doi: 10.1016/j.jaci.2013.06.013. Epub 2013 Jul 4. J Allergy Clin Immunol. 2013. PMID: 23830146 Free PMC article.
253 results