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23篇 您的检索式:作者名="Del Castillo FJ"
    题名 作者 年代 出处 被引量
1A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment显示文摘Gandla M Del Castillo FJ Rodrlguez-llvarez FJ 2013PLoS One2013,8,73:1
2Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-- syndromie hearing loss显示文摘del Castillo FJ Rodriguez--Ballesteros M Martin Y 2003J Med Genet2003,40,:1
3Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy显示文摘Delmaghani S del Castillo FJ Michel V 2006Nat Genet2006,38,:1
4A novel deletion involving the connexin 30 gene, del ( GJB6 - d13s1854 ) , found in trans with mutations in the GJB2 gene (connexin -26) in subjects with DFNBI nonsydromic hearing impairment 显示文摘del Castillo FJ Rodfiguez -Ballesteros M Alvarez A 2005J Med Genet2005,42,7:1
5Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59 auditory neuropathy显示文摘Delmaghani S del Castillo FJ Michel V 2006Nat Genet2006,38,7:1
6Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59 auditory neuropathy 显示文摘Delmaghani S del Castillo FJ Michel V 2006Nat Genet2006,38,7:1
7Construction and characterization of mutations at eodon 751 of the Escherichia coli gyrB gene that confer resistance to the antimicrobial peptide microcin BI7 and alter the activity of DNA gyrase 显示文摘del Castillo FJ del Castillo I Moreno F 2001Journal of Bacteriology2001,183,6:1
8Prevalence and evolutionary origins of the del(GJB6-D13S1830)mutation in the DFNB1 locus in hearingimpaired subjects:A multicenter study显示文摘Del Castillo I Moreno-Pelayo MA Del Castillo FJ 2003Am J Hum Genet2003,73,:1
9Mutations in the gehe encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB 59 auditory neuropathy显示文摘DELMAQHANI S DEL CASTILLO FJ MICHEL V 2006Nat Genet2006,38,7:1
10A novel deletion involving the connexin-30 gene,del (GJB6-d13s1854),found in trans with mutations in the GJB2 gene(connexin-26) in subjects with DFNB1 non-syndromic hearing impairment显示文摘del Castillo FJ Rodriguez-Ballesteros M Alvarez A 2005J Med Genet2005,42,7:1
11Importance of standardized care bundles in the emergency department to improve management of com- munity-acquired pneumonia 显示文摘Julian- Jimenez A Gonzalez Del Castillo J Candel Gonzalez FJ 2014Eur Emerg Med2014,21,4:1
12A novel deletion involving the connexin--30 gene, del (GJB6 --d13s1854), found in trans with mutations in the GJB2 gene (connexin--26) in subjects with DFNB1 non--syndromic hearing impairment显示文摘Del Castillo FJ Rodriguez--Ballesteros M Alvarez A 2005J Med Genet2005,42,:1
13Prevalence and evolutionary origins of the del (GJB6- D13S1830) mutation in the DFNB1 locus in hearing- im- paired subjects: a multicenter study显示文摘Del Castillo I Moreno--Pelayo MA Del Castillo FJ 2003Am J Hum Genet2003,73,:1
14Heteroplasmy for the 1555A>G mutation in themitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss显示文摘del Castillo FJ Rodriguez-Ballesteros M Mart i n Y 2003J Med Genet2003,40,:1
15Mutations in the gene encoding pejvakin,a newly identified protein of the afferent auditory pathway,cause DFNB59 auditory neuropathy显示文摘Delmaghani S del Castillo FJ Michel V et el 2006Nat Genet2006,38,:1
16Mutations in the genc encoding pejvakin,a newly indentified protian of the afferent auditory pathway, cause DFNB59 auditory neuropa- thy显示文摘Dalmaghani S del Castillo FJ Micheal V 2006Nat Genct2006,38,:1
17Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing impaired subjects:a multicenter study显示文摘del Castillo I Moreno-Pelayo MA del Castillo FJ Brown-stein Z Marlin S Adina Q Cockburn DJ Pandya A Siemering KR Chamberlin GP Ballana E WuytsW Maciel-Guerra AT Alva-rez A Villamar M Shohat M Abeliovich D Dahl HHM Estivill X Gasparini P Hutchin T Nance WE 0,,:1
18The DFNB1subtype of autosomal recessive non-syndromic hearing impairment显示文摘del Castillo FJ del Castillo I 2011Front Biosci(Landmark Ed)2011,16,:1
19Mutations in the gene encoding pej-vakin,a newly identified protein of the afferent auditory pathway,cause DFNB59 auditory neuropathy显示文摘Delmaghani S del Castillo FJ Michel V Leibovici M Aghaie A Ron U Van Laer L Ben-Tal N Van Camp G Weil D Langa F Lathrop M Avan P Petit C 0,,07:1
20Mutations in the gene encoding pej-vakin,a newly identified protein of the afferent auditory pathway,cause DFNB59 auditory neuropathy显示文摘Delmaghani S del Castillo FJ Michel V Leibovici M Aghaie A Ron U Van Laer L Ben-Tal N Van Camp G Weil D Langa F Lathrop M Avan P Petit C 0,,07:1
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