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35篇 您的检索式：作者名="Guipponi"

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	题名	作者	年代	出处	被引量
1	The trans- membrane serine protease ( TMPRSS3 ) mutated indeafness DFNB8! 10 activates the epithelial sodium channel (ENaC) in vitro 显示文摘	Guipponi M Vuagniaux G Wattenhofer M	2002	Hum Mol Genet2002，11，23：	1
2	TMPRSS3, a type lI transmembrane serine protease mutated in non-syndromic autosomal recessive deafness 显示文摘	Guipponi M Antonarakis SE Scott HS	2008	Front Biosci2008，1，13：	1
3	Genetic linkage study of an autosomal recessive form ofJuvenile myoclonic epilepsy in a consan?guineous Tunisian family显示文摘	Layouni 5 Salzmann A Guipponi M	2010	Epilepsy Res2010，90，12：	1
4	Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21显示文摘	GUIPPONI M YASPO M L RIESSELMAN L	2000	Hum Genet2000，107，2：	1
5	Contribution of common genetic variants to antidepressant response显示文摘	Tansey KE Guipponi M Hu X	2013	Bioi Psychiatry2013，73，7：	1
6	Identification of a new locus for generalized epilepsy with febrile seizures plus(GEFS+) on chromosome 2q24-q33显示文摘	Mouland B Guipponi M Chaigne D	1999	Am J Genet1999，65，5：	1
7	Identification of additional tran- scripts in the Williams - Beuren syndrome critical region 显示文摘	Merla G Ucla C Guipponi M	2002	Hum Genet2002，110，5：	1
8	An integrated genetic and functional analysis of the role of type II transmembrane serine proteases (TMPRSSs) in hearing loss 显示文摘	Guipponi M Toh M Y Tan J	2008	Hum Mutat2008，29，1：	1
9	Identfication of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33 显示文摘	Moulard B Guipponi M Chaigne D	1999	Am J Hum Genet1999，65，5：	1
10	The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro显示文摘	Guipponi M Vuagniaux G Wattenhofer M	2002	Hum Mol Genet2002，11，23：	1
11	Genomic structure of a copy of the human TPTE gene which encompasses 87 kb on the short arm of chromosome 21显示文摘	Guipponi M1 Yaspo ML Riesselman L	2000	Hum Genet2000，107，2：	1
12	Mice deficient for the type II transmembrane serine protease, TMPRSS1/hepsin, ex hibit profound hearing loss显示文摘	Guipponi M Tan J Cannon P Z	2007	Am J Patbol2007，171，2：	1
13	Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33 显示文摘	Moulard B Guipponi M Chaigne D	1999	Am J Hum Genet1999，65，5：	1
14	Novel mis-sense mutations of TMPRSS3 in two consanguineous Tunisian families with nonsyndromic autosomal recessive deafness显示文摘	Masmoudi S Antonarakis SE Schwede T Ghorbel AM Gratri M Pappasavas M-P Drira M Elgaied-Boulila A Watten-hofer M Rossier C Scott HS Ayadi H Guipponi M		0，，：	1
15	TMPRSS3, a type II transmembrane serine protease mutated in nou-syndromic autosomal recessive deafness显示文摘	Guipponi M Antonarakis S E Scott H S	2008	Front Biosci2008，13，4：	1
16	Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q显示文摘	Guipponi M Rivier F Vigevano F et a1	1997	Hum Mol Genet1997，6，：	1
17	Tmprss3 loss of func-tion impairs cochlear inner hair cell Kcnma1 channel membrane expression显示文摘	Molina L Fasquelle L Nouvian R Salvetat N Scott HS Guipponi M Molina F Puel JL Delprat B		0，，07：	1
18	Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q 显示文摘	Guipponi M Rivier F Vigevano F	1997	Hum Mol Genet1997，6，：	1
19	Identification of a New Lo- cus for Generalized Epilepsy with Febrile Seizures Plus ( GEFS + ) on Chromosome 2q24-q33 显示文摘	Moulard B Guipponi M Chaigne D	1999	Am J Hum Genet1999，65，：	1
20	TMPRSS3, a type lI transmembrane serine protease mutated in non- syndromie autosomal recessive deafness 显示文摘	Guipponi M Antonarakis SE Scott HS	2008	Front Bios- el2008，13，：	1

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