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29篇 您的检索式:作者名="Boerkoel"
    题名 作者 年代 出处 被引量
1Alstr?m syndrome: further evidence for linkage to human chromosome 2p13显示文摘G.B. Collin J.D. Marshall C.F. Boerkoel A.V. Levin R. Weksberg J. Greenberg J.L. Michaud J.K. Naggert P.M. Nishina 1999Human Genetics1999,,5:1
2Charcot-Marie-Tooth disease and related neuropathies:mutation distribution and genotype-phellotype correlation显示文摘Boerkoel CF Takashima H Garcia CA 2002Ann Neurol2002,51,:1
3Charcot-Marie-Tooth disease and related neuropathies:mutation distribution and genotype-phenotype correlation显示文摘Boerkoel CF Takashima H Garcia CA 2001Ann Neurol2001,51,:1
4Advances in chromatin remodeling and haman disease 显示文摘CHO KS ELIZONDO LI BOERKOEL CF 2004Cart Opio Genet Dev2004,14,3:1
5Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease 显示文摘Jordanova A De Jonghe P Boerkoel CF 2003Brain2003,126,3:1
6A new defective retroviral vector system based on the Bryan strain of Rous sarcoma virus 显示文摘Boerkoel C F Federspiel M J Salter D W et aI 1993Virology1993,195,2:1
7Mutation of TDP1, encoding atopoisomerase I-dependent DNA damage repair enzyme,in spinocer- ebellarataxia with axonal neuropathy 显示文摘Takashima H Boerkoel CF John J 2002Nat Genet2002,32,2:1
8Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in pheno-typic spread of the genotypic correction by both secretion and fusion显示文摘Zaretsky JZ Candotti F Boerkoel C 1997Hum Gene Ther1997,8,:1
9Advances in chromatin remodeling and human disease显示文摘Cho KS Elizondo LI Boerkoel CF 2004Curr Opin Genet Dev2004,14,2:1
10Chromatin remodeling and human disease显示文摘Huang C Sloan EA Boerkoel CF 2003Curr Opin Genet Dev2003,13,3:1
11Periaxin mutations cause recessive Dejerine-Sottas neuropathy 显示文摘Boerkoel C F Takashima H Stankiewicz P 2001Am J Hum Genet2001,68,2:1
12Periaxin mutations cause a broad spectrum of demyelinating neuropathies 显示文摘Takashima H Boerkoel C F De Jonghe P 2002Ann Neurol2002,51,6:1
13Periaxin mutations cause recessive Dejerine-Sottas neuropathy 显示文摘Boerkoel C F Takashima H Stankiewicz P 2001Am J Hum Genet2001,68,2:1
14Chromatin remodeling and human disease显示文摘HUANG C SLOAN E A BOERKOEL C F 2003Curt Opin Genet Dev2003,13,3:1
15A new defective retroviral vector system based on the Bryan strain of P, ous sarcoma virus显示文摘Boerkoel C F Federspiel M J Salter D W 1993Virology1993,195,2:1
16A new defective retroviral vector system based on the bryan strain of rous sarcoma virus 显示文摘Boerkoel CF Federspiel M J Salter DW 1993Virology1993,195,2:1
17Screening for mutations in a genetically heterogeneous disorder:DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy显示文摘Takashima H Boerkoel C F Lupski J R 2001Genet Med2001,3,5:1
18Chromatin remodeling and human disease显示文摘Huang C Sloan EA Boerkoel CF 0,,03:1
19CMT4A: identification of a hispanic GDAP1 founder mutation 显示文摘Boerkoel CF Takashima H Nakagawa M 2003Ann Neurol2003,53,:1
20Periaxin mutations cause recessive Dejerine-Sottas neuropathy 显示文摘Boerkoel CF Takashima H Stankiewicz P 2001Am J Hum Genet2001,68,:1
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