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21篇 您的检索式:作者名="BASSI MT"
    题名 作者 年代 出处 被引量
1Identification and characterization of AFG3L2,a novel paraplegin-related gene显示文摘Banfi S Bassi MT Andolfi G 1999Genomics1999,59,:1
2A novel mutation in the ATP1 A2 gene causes alternating hemiplegia of childhood显示文摘Bassi MT Bresolin N Tonelli A 2004J Med Genet2004,41,8:1
3Cloning of the gene for ocular albi- nism type I from the distal short arm of the X chromosome显示文摘BASSI MT SCHIAFFINO MV RENIERI A De NIGRIS F GAL LI L BRUTTINI M 1995Nat Genet1995,10,1:1
4SLC7a8,a gene mapping within the lysinuric protein intolerance critical region,encodes a new member of the glycoprotein-associ-ated amino acid transporter family显示文摘Bassi MT Sperandeo MP Incerti B 1999Genomics1999,62,2:1
5Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism显示文摘Schiaffino MV Bassi MT Galli L 1995Hum Mol Genet1995,4,12:1
6SLC7A8,a gene mapping within the lysinuric protein intolerance critical region,encodes a new member of the glycoprotein-associated amino acid transporter family显示文摘BASSI MT SPERANDEO MP INCERTI B 1999Genomics1999,62,2:1
7Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC)显示文摘 Balottin U Panzeri C Piccinelli P Castaldo P Barrese V 2005Neurogenetics2005,19,:1
8Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene:sequence,genomic structure,and expression analysis in pigment cells显示文摘Bassi MT Incerti B Easty DJ 1996Genome Res1996,6,:1
9Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome显示文摘 Sciaffino MV Renieri A 1995Nat Genet1995,10,1:1
10Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells显示文摘 Incerti B Easty DJ 1996Genome Res1996,6,9:1
11Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1显示文摘 Pizzigoni A Bassi MT 2000Hum Mol Genet2000,9,20:1
12The emerging role of acid sphingomyelinase in autophagy显示文摘Perrotta C Cervia D De Palma C Assi E Pellegrino P Bassi MT 2015Apoptosis2015,20,5:1
13Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North American显示文摘 Bergen AA Bitoun P 2001Hum Genet2001,108,2:1
14Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism显示文摘 Bassi MT Galli L 1995Hum Mol Genet1995,4,12:1
15Human hnRNP protein Al gene expression:structural and functional characterization of the promoter显示文摘Biamonti G Bassi MT Cartegni L 1993J Mol Biol1993,230,1:1
16X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats显示文摘 Ramesar RS Caciotti B 1999Am J Hum Genet1999,64,6:1
17A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsywith centrotempo- ral spikes显示文摘Fusco C Frattini D Bassi MT 2015Enr J Paediatr Neurol2015,19,1:1
18Slc7a8,a gene mapping within the lysinuric protein intolerance critical region,encodes a new member of the glycoprotein-associated amino acid transporter family显示文摘Bassi MT Sperandeo MP Incerti B 1999Genomics1999,62,2:1
19Norepinephrine loss exacerbates methamphetamine- induced striatal dopamine depletion in mice显示文摘Fornai F Bassi L Torracca MT 1995Eur J Pharmacol1995,283,13:1
20A novel mutation in the ATP1A2 gene causes alternating hemiplegia of childhood显示文摘Bassi MT Bresolin N Tonelli A 2004J Med Genet2004,41,:1
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