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Year Number of Results
2014 3
2015 1
2018 2
2019 3
2020 2
2021 1
2022 3
2023 3
2024 0

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15 results

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Page 1
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Among authors: rubinato e. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P, Fiorino S, Lenarduzzi S, Rubinato E, Cattaruzzi E, Ammar L, Castro V, Orzan E, Granata C, Dell'Orco D, Morgan A, Girotto G. Tesolin P, et al. Among authors: rubinato e. Genes (Basel). 2021 Oct 1;12(10):1569. doi: 10.3390/genes12101569. Genes (Basel). 2021. PMID: 34680964 Free PMC article.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: rubinato e. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
A girl with photosensitivity and hepatic steatosis.
Pavan M, Gortani G, Rubinato E, Faletra F, Pastore S, Ventura A. Pavan M, et al. Among authors: rubinato e. J Pediatr. 2014 Jul;165(1):201-201.e1. doi: 10.1016/j.jpeds.2014.02.056. Epub 2014 Apr 3. J Pediatr. 2014. PMID: 24704299 No abstract available.
Obstructive jaundice in a 3-month-old baby.
Amaddeo A, Rubinato E, Schleef J, Olenik D, Giglia D, Marchetti F, Ventura A. Amaddeo A, et al. Among authors: rubinato e. J Pediatr Gastroenterol Nutr. 2014 Sep;59(3):e31. doi: 10.1097/MPG.0b013e31827e1ec6. J Pediatr Gastroenterol Nutr. 2014. PMID: 23201703 No abstract available.
15 results