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p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A. Pinna V, et al. Among authors: clementi m. Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5. Eur J Hum Genet. 2015. PMID: 25370043 Free PMC article.
Is there a link between COQ6 and schwannomatosis?
Trevisson E, Clementi M, Salviati L. Trevisson E, et al. Among authors: clementi m. Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211. Genet Med. 2015. PMID: 25835193 Free article. No abstract available.
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Forzan M, et al. Among authors: clementi m. J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115. Epub 2009 Nov 6. J Hum Genet. 2010. PMID: 19893581
Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.
Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L. Desbats MA, et al. Among authors: clementi m. Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7. Eur J Hum Genet. 2015. PMID: 25564041 Free PMC article.
836 results