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Year | Number of Results |
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2023 | 3 |
2024 | 3 |
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Ultrasound features of a bilineal inheritance of autosomal dominant polycystic kidney disease.
Eur J Obstet Gynecol Reprod Biol. 2024 May;296:382-383. doi: 10.1016/j.ejogrb.2024.03.026. Epub 2024 Mar 19.
Eur J Obstet Gynecol Reprod Biol. 2024.
PMID: 38519376
No abstract available.
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Trevisan L, Godino L, Battistuzzi L, Innella G, Luppi E, Buzzatti G, Gismondi V, Blondeaux E, Bonelli LA, Turchetti D, Varesco L.
Trevisan L, et al. Among authors: luppi e.
Fam Cancer. 2023 Nov 16. doi: 10.1007/s10689-023-00349-w. Online ahead of print.
Fam Cancer. 2023.
PMID: 37968543
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Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory.
Martorana D, Barili V, Uliana V, Ambrosini E, Riva M, De Sensi E, Luppi E, Messina C, Caleffi E, Pisani F, Percesepe A.
Martorana D, et al. Among authors: luppi e.
Eur J Med Genet. 2023 Nov;66(11):104847. doi: 10.1016/j.ejmg.2023.104847. Epub 2023 Sep 24.
Eur J Med Genet. 2023.
PMID: 37751797
Free article.
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Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
Hitti-Malin RJ, Panneman DM, Corradi Z, Boonen EGM, Astuti G, Dhaenens CM, Stöhr H, Weber BHF, Sharon D, Banin E, Karali M, Banfi S, Ben-Yosef T, Glavač D, Farrar GJ, Ayuso C, Liskova P, Dudakova L, Vajter M, Ołdak M, Szaflik JP, Matynia A, Gorin MB, Kämpjärvi K, Bauwens M, De Baere E, Hoyng CB, Li CHZ, Klaver CCW, Inglehearn CF, Fujinami K, Rivolta C, Allikmets R, Zernant J, Lee W, Podhajcer OL, Fakin A, Sajovic J, AlTalbishi A, Valeina S, Taurina G, Vincent AL, Roberts L, Ramesar R, Sartor G, Luppi E, Downes SM, van den Born LI, McLaren TL, De Roach JN, Lamey TM, Thompson JA, Chen FK, Tracewska AM, Kamakari S, Sallum JMF, Bolz HJ, Kayserili H, Roosing S, Cremers FPM.
Hitti-Malin RJ, et al. Among authors: luppi e.
Biomolecules. 2024 Mar 19;14(3):367. doi: 10.3390/biom14030367.
Biomolecules. 2024.
PMID: 38540785
Free PMC article.
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A New COL1A1 Mutation Associated With Type I Osteogenesis Imperfecta: Treatment Options for a Woman of Childbearing Age.
Berti S, Luppi E, Seri M, Zavatta G.
Berti S, et al. Among authors: luppi e.
JCEM Case Rep. 2023 Aug 16;1(4):luad096. doi: 10.1210/jcemcr/luad096. eCollection 2023 Jul.
JCEM Case Rep. 2023.
PMID: 37908991
Free PMC article.
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Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2.
Innella G, Ferrari S, Miccoli S, Luppi E, Fortuno C, Parsons MT, Spurdle AB, Turchetti D.
Innella G, et al. Among authors: luppi e.
J Med Genet. 2024 Apr 19;61(5):483-489. doi: 10.1136/jmg-2023-109694.
J Med Genet. 2024.
PMID: 38160042
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