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30篇 您的检索式：作者名="RABIONET"

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	题名	作者	年代	出处	被引量
1	Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment显示文摘	Lopez-Bigas N Olive M Rabionet R	2001	Hum Mol Genet2001，10，：	1
2	Connexin31(GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment显示文摘	LOPEZ BIGAS N OLIVA M RABIONET R	2001	Hum Mol Genet2001，10，9：	1
3	Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin?26) gene显示文摘	R. Rabionet L. Zelante N. López-Bigas L. D’Agruma S. Melchionda G. Restagno M.L. Arbonés P. Gasparini X. Estivill	2000	Human Genetics2000，，1：	1
4	Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins显示文摘	RABIONET R GASPARINI P ESTIVILL X	2000	Hum Mutat2000，16，：	1
5	Genetic Analysis Consortium of GJB2 35delG.High carrier frequency of the 35delG deafness mutation in European populations显示文摘	Gasparini P Rabionet R B G		0，，：	1
6	Connexin 31 (GJR3) is expressed in the in the peripheral and audiory nerves and caused neuropathy and hearing impairment显示文摘	LOPEZ-BIGAS N OLIVE M RABIONET R	2001	Hum Mol Genet2001，10，9：	1
7	Human connexin26(GJB2)deafness mutations affect the function of gap junction channels at different levels of protein expression显示文摘	THONNISSEN E RABIONET R ARBONES M L		0，，：	1
8	Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment显示文摘	L6pez-Bigas N Olivé M Rabionet R	2001	Hum Mol Genet2001，10，9：	1
9	Deletion of the late comified envelope genes, LCE3C and LCE3B, is associated with rheumatoid arthritis 显示文摘	Docampo E Rabionet R Riveira-Munoz E	2010	Arthritis Rheum2010，62，5：	1
10	High carrier frequency of the 35delG deafness mutation in European populations显示文摘	Gasparini P Rabionet R Barbujani G	2000	European Journal of Human Genetics2000，8，：	1
11	Ceramide synthe-sis in the epidermis显示文摘	Rabionet M Gorgas K Sandhoff R		0，，13：	1
12	DNA meth- ylation in neurodegenerative disorders: a missing link between genome and environment? 显示文摘	IRAOLA-GUZMAN ESTIVILL X RABIONET R	2011	Clinical Genetics2011，80，1：	1
13	Novel variants identi- fied in methyl-CpG-binding domain genes in autistic individu- als 显示文摘	Cukier HN Rabionet R Konidari I	2010	Neurogenetics2010，11，3：	1
14	Analysis of the autism chromosome 2 linkage region:GAD1 and other candidate genes显示文摘	Rabionet R Jaworski JM Ashiey-Koch AE	2004	Neurosci Lett2004，372，：	1
15	Molecular hearing impairment due to mutations in gap junction genes encoding beta connexins 显示文摘	Rabionet R Gasparini P Estivill X	2000	Hum Mutat2000，16，3：	1
16	High carrier frequency of the 35delG deafness mutation in European populations 显示文摘	Gasparini P Rabionet R Barbujani G	2000	European Journal of Human Genetics2000，8，：	1
17	High carrier frequency of the 35delG deafness mutation in European populations显示文摘	GASPARINI P RABIONET R BARBUJANI G	2000	Eur J Hum Genet2000，8，：	1
18	Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients 显示文摘	Wattenhofer M Di Iorio M V Rabionet R	2002	J Mol Med2002，80，2：	1
19	Connexin 31(CJB3)is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment显示文摘	López-Bigas N Olivé M Rabionet R	2001	Hum Mol Genet2001，10，9：	1
20	Mitochondrial12S rRNAgene mutations affect RNA secondary structure and lead to variablepenetrance in hearing impairment显示文摘	Ballana E Morales E Rabionet R	2006	Biochem Biophys Res Com-mun2006，341，4：	1

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