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977 results

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Page 1
Functional analysis of splicing mutations in exon 7 of NF1 gene.
Bottillo I, De Luca A, Schirinzi A, Guida V, Torrente I, Calvieri S, Gervasini C, Larizza L, Pizzuti A, Dallapiccola B. Bottillo I, et al. Among authors: dallapiccola b. BMC Med Genet. 2007 Feb 12;8:4. doi: 10.1186/1471-2350-8-4. BMC Med Genet. 2007. PMID: 17295913 Free PMC article.
How many breaks do we need to CATCH on 22q11?
Dallapiccola B, Pizzuti A, Novelli G. Dallapiccola B, et al. Am J Hum Genet. 1996 Jul;59(1):7-11. Am J Hum Genet. 1996. PMID: 8659546 Free PMC article. Review. No abstract available.
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
Gennarelli M, Novelli G, Andreasi Bassi F, Martorell L, Cornet M, Menegazzo E, Mostacciuolo ML, Martinez JM, Angelini C, Pizzuti A, Baiget M, Dallapiccola B. Gennarelli M, et al. Among authors: dallapiccola b. Am J Med Genet. 1996 Nov 11;65(4):342-7. doi: 10.1002/(SICI)1096-8628(19961111)65:4<342::AID-AJMG18>3.0.CO;2-U. Am J Med Genet. 1996. PMID: 8923947
Expression study of survival motor neuron gene in human fetal tissues.
Novelli G, Calzà L, Amicucci P, Giardino L, Pozza M, Silani V, Pizzuti A, Gennarelli M, Piombo G, Capon F, Dallapiccola B. Novelli G, et al. Among authors: dallapiccola b. Biochem Mol Med. 1997 Jun;61(1):102-6. doi: 10.1006/bmme.1997.2590. Biochem Mol Med. 1997. PMID: 9232204
Two new missense mutations (A105T and C110G) in the norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy.
Torrente I, Mangino M, Gennarelli M, Novelli G, Giannotti A, Vadalà P, Dallapiccola B. Torrente I, et al. Among authors: dallapiccola b. Am J Med Genet. 1997 Oct 17;72(2):242-4. doi: 10.1002/(sici)1096-8628(19971017)72:2<242::aid-ajmg23>3.0.co;2-m. Am J Med Genet. 1997. PMID: 9382152 No abstract available.
From genetic research into clinical practice.
Dallapiccola B, Torrente I, Mingarelli R, Novelli G. Dallapiccola B, et al. Acta Genet Med Gemellol (Roma). 1997;46(3):139-46. doi: 10.1017/s0001566000000556. Acta Genet Med Gemellol (Roma). 1997. PMID: 9645231
977 results