Angelo FACCHIANO | Pubblicazioni

50439Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations.

	2012
	Articolo in rivista
	Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations. MOLECULAR GENETICS AND METABOLISM. Vol. 107. Pag.438-447 ISSN:1096-7192.
	Boutron, A; Marabotti, Anna; Facchiano, A; Cheillan, D; Zater, M; Oliveira, C; Costa, C; Labrune, P; Brivet, M; Loisel, N; Morin, G; Barth, M; Altuzarra, C; Mesli, S; Rigalleau, V; Rhead, Mh; de Schrevel, G; Thauvin Robinet, C; Santos, A; Dobbelaere, D; Mention, K; Guffon, N; Cano, A; Feillet, F; Krempf, P; Pitelet, G; Bernard, O; Hermeziu, B; Gonzalez, E; Habes, D; Jacquemin, E; de Baulny, H; Roche, S; Debray, D; de Lonlay, P; Servais, A; Touati, G; Bednarek, N; Garnotel, R; Devaux, Am; Gay, C; Eyer, D; Baruteau, J; Broué, P; Labarthe, F; Maillot, F.
	Digital Object Identifier (DOI): 10.1016/j.ymgme.2012.07.025 Codice identificativo ISI: WOS:000310720200028 Codice identificativo SCOPUS: 2-s2.0-84867895538
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50438Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene.

	2012
	Articolo in rivista
	Correlation assessment among clinical phenotypes, expression analysis and molecular modeling of 14 novel variations in the human galactose-1-phosphate uridylyltransferase gene. HUMAN MUTATION. Vol. 33. Pag.1107-1115 ISSN:1059-7794.
	Tang, M; Facchiano, A; Rachamadugu, R; Calderon, F; Mao, R; Milanesi, L; Marabotti, Anna; Lai, K.
	Digital Object Identifier (DOI): 10.1002/humu.22093 Codice identificativo ISI: WOS:000304815100015 Codice identificativo SCOPUS: 2-s2.0-84861886186
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50746Solving biclustering with a GRASP-like metaheuristic: two case-study on gene expression analysis

	2012
	Contributo in Atti di convegno
	Solving biclustering with a GRASP-like metaheuristic: two case-study on gene expression analysis. In: Computational Intelligence Methods for Bioinformatics and Biostatistics Berlin Springer Verlag Vol.7548, Pag.253-267 ISBN:9788890643705
	8th International Meeting on Computational Intelligence Methods for Bioinformatics and Biostatistics (CIBB2011) Gargnano del Garda, Italy June 30 – July 2, 2011
	Facchiano, Angelo; Festa, Paola; Marabotti, Anna; Milanesi, Luciano; Musacchia, Francesco
	Digital Object Identifier (DOI): 10.1007/978-3-642-35686-5_21 Codice identificativo SCOPUS: 2-s2.0-84871578747
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