Bisceglia L - Search Results

1

MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.

Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: bisceglia l. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.

2

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):210. Hum Genet. 2007. PMID: 18386358 No abstract available.

3

Localization, by linkage analysis, of the cystinuria type III gene to chromosome 19q13.1.

Bisceglia L, Calonge MJ, Totaro A, Feliubadaló L, Melchionda S, García J, Testar X, Gallucci M, Ponzone A, Zelante L, Zorzano A, Estivill X, Gasparini P, Nunes V, Palacín M. Bisceglia L, et al. Am J Hum Genet. 1997 Mar;60(3):611-6. Am J Hum Genet. 1997. PMID: 9042921 Free PMC article.

4

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Palumbo O, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386345 No abstract available.

5

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386348 No abstract available.

6

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):215. Hum Genet. 2007. PMID: 18386385 No abstract available.

7

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):207. doi: 10.1007/s00439-007-0398-z. Hum Genet. 2007. PMID: 17629748 No abstract available.

8

Human gene mutations. Gene symbol: SLC7A9. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):208. Hum Genet. 2007. PMID: 18386347 No abstract available.

9

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Di Perna M, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):209. Hum Genet. 2007. PMID: 18386351 No abstract available.

10

Human gene mutations. Gene symbol: SLC3A1. Disease: cystinuria.

Bisceglia L, Stanziale P, Zelante L. Bisceglia L, et al. Hum Genet. 2007 Sep;122(2):209. Hum Genet. 2007. PMID: 18386352 No abstract available.

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