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Year | Number of Results |
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2011 | 1 |
2012 | 1 |
2020 | 1 |
2021 | 2 |
2022 | 2 |
2023 | 1 |
2024 | 0 |
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Page 1
De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.
Pediatr Rep. 2022 Mar 11;14(1):131-139. doi: 10.3390/pediatric14010019.
Pediatr Rep. 2022.
PMID: 35324822
Free PMC article.
Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility.
Leone MP, Morlino S, Nardella G, Pracella R, Giachino D, Celli L, Baldo D, Turolla L, Piccione M, Salzano E, Busè M, Lastella P, Zollino M, Cantone R, Grosso E, Zonta A, Pasini B, Piscopo C, De Maggio I, Priolo M, Mammi C, Foiadelli T, Trabatti C, Savasta S, Iolascon A, Ferraris A, Lodato V, Di Giosaffatte N, Majore S, Selicorni A, Petracca A, Fusco C, Celli M, Guarnieri V, Micale L, Castori M.
Leone MP, et al. Among authors: de maggio i.
Hum Genet. 2023 Jun;142(6):785-808. doi: 10.1007/s00439-023-02547-z. Epub 2023 Apr 20.
Hum Genet. 2023.
PMID: 37079061
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D.
Di Candia F, et al. Among authors: de maggio i.
Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7.
Eur J Pediatr. 2022.
PMID: 34232366
Free PMC article.
Review.
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Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC-7 Mutants.
Di Zanni E, Palagano E, Lagostena L, Strina D, Rehman A, Abinun M, De Somer L, Martire B, Brown J, Kariminejad A, Balasubramaniam S, Baynam G, Gurrieri F, Pisanti MA, De Maggio I, Abboud MR, Chiesa R, Burren CP, Villa A, Sobacchi C, Picollo A.
Di Zanni E, et al. Among authors: de maggio i.
J Bone Miner Res. 2021 Mar;36(3):531-545. doi: 10.1002/jbmr.4200. Epub 2020 Nov 29.
J Bone Miner Res. 2021.
PMID: 33125761
Free article.
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A novel GLA mutation in a Fabry family with glucose-6-phosphate dehydrogenase deficiency.
Pisani A, Visciano B, Russo R, Mozzillo GR, Porto C, De Maggio I, Russo R, Pontarelli G, Villani GR, Cianciaruso B, Di Natale P.
Pisani A, et al. Among authors: de maggio i.
J Nephrol. 2012 Jul-Aug;25(4):582-5. doi: 10.5301/jn.5000073.
J Nephrol. 2012.
PMID: 22307442
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Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population.
Russo R, Gambale A, Esposito MR, Serra ML, Troiano A, De Maggio I, Capasso M, Luzzatto L, Delaunay J, Tamary H, Iolascon A.
Russo R, et al. Among authors: de maggio i.
Am J Hematol. 2011 Sep;86(9):727-32. doi: 10.1002/ajh.22096.
Am J Hematol. 2011.
PMID: 21850656
Free PMC article.
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