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Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy.
Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro V, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Accogli A, et al. Among authors: novelli g. Neurology. 2021 Aug 10;97(6):e577-e586. doi: 10.1212/WNL.0000000000012298. Epub 2021 Jun 2. Neurology. 2021. PMID: 34078716 Free PMC article.
Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome.
Brancati F, Camerota L, Colao E, Vega-Warner V, Zhao X, Zhang R, Bottillo I, Castori M, Caglioti A, Sangiuolo F, Novelli G, Perrotti N, Otto EA; Undiagnosed Disease Network Italy. Brancati F, et al. Among authors: novelli g. Eur J Hum Genet. 2018 Sep;26(9):1266-1271. doi: 10.1038/s41431-018-0183-6. Epub 2018 Jun 11. Eur J Hum Genet. 2018. PMID: 29891882 Free PMC article.
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene.
Guerra L, Bergamo F, D'Apice MR, Angelucci F, di Girolamo S, Camerota L, Monetta R, Annessi G, Castiglia D, Novelli G, Paradisi M, Brancati F. Guerra L, et al. Among authors: novelli g. Acta Derm Venereol. 2019 Nov 1;99(12):1192-1194. doi: 10.2340/00015555-3291. Acta Derm Venereol. 2019. PMID: 31408183 Free article. No abstract available.
Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.
Camerota L, Ritelli M, Wischmeijer A, Majore S, Cinquina V, Fortugno P, Monetta R, Gigante L, Marfan Syndrome Study Group Tor Vergata University Hospital, Sangiuolo FC, Novelli G, Colombi M, Brancati F. Camerota L, et al. Among authors: novelli g. Genes (Basel). 2019 Sep 28;10(10):764. doi: 10.3390/genes10100764. Genes (Basel). 2019. PMID: 31569402 Free PMC article. Review.
1,181 results