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20篇 您的检索式:期刊名="Human Gen"
    题名 作者 年代 出处 被引量
1Roles of BRCA1 in DNA damage repair:a link between development and cancer显示文摘Deng CX Wang RH 2003Human Mol Gen2003,12,1:1
2Folate receptor alpha defect causes cerebral folate transport deficiency:A treatable neurodegenerative disorder associated with disturbed myelin metabolism 显示文摘Steinfeld R Grapp M Kraetzner R 2009Am J Human Gen2009,85,3:1
3Vitiligo:complex segregation and linkage disequilibrium analyses with respect to microsatellite loci spanning the HLA显示文摘Arcos Burgos M Parodi E 2002Human Gen2002,110,4:1
4Interaction of p resenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2显示文摘Wang HQ Nakaya Yoshifumi Du ZY 2005Human Mol Gen2005,14,13:1
5Construction of a genetic linkage map in man using restriction fragment length polymorphism显示文摘BOTSTEIN D WHITE R L SKOLNICK M 1980Amer J Human Gen1980,32,:1
6A meta-analysis of association between C677T polymorphism in the methylenetetrahydrofolate reductase gene and hypertension显示文摘Qian X Lu Z Tan M 2007Eur J Human Gen2007,15,12:1
7Methylenetetrahydrofolate reductase gene polymorphism as a risk factor for diabetic nephropathy:a meta-analysis显示文摘Zintzaras E Uhlig K Koukoulis GN 2007J Human Gen2007,52,11:1
8Defective HSV-Ⅰ vector expressing BDNF in auditory ganglia elicits neurite outgrowth model for treatment of neuroloss following cellular-degeneration显示文摘 1996Human Gen Ther1996,7,:1
9Construction of a genetic linkage map in man using restriction fragment length polymorphism 显示文摘Botstein D White R L Skolnick M 1980Amer J Human Gen1980,32,:1
10Autophagy regulates processing of amino terminal htuntingtin fragments 显示文摘Qin ZH Wang Y Kegel KB 2003Human Mol Gen2003,12,:1
11Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents 显示文摘The American Society of Human Genetics Board of Directors the American College of Medical Genetics Board of Directors 1995Am J Human Gen1995,57,5:1
12Points to Consider: Ethical, Legal, and Psychosocial Implicationsof Genetic Testing in Children and Adolescents显示文摘Botkin JR Belmont JW Berg JS 2015Am J Human Gen2015,97,1:1
13ADAMTS7 cleavage and vascular smooth muscle cell migration is affected by a coronary-artery- disease-associated variant 显示文摘Pu X Xiao Q Kieehl S 2013Am J Human Gen2013,92,:1
14Mitochondrial DNA polymerase-gamma and human disease 显示文摘HUDSON G CHINNERY P F 2006Human Molr Gen2006,15,:1
15A mouse geneticmodel for familial cholestasis caused by ATP8B1 mutations re- veals perturbed bile salt homeostasis but no impairment in bile secretion 显示文摘Pawlikowska L Groen A Eppens EF 2004Human Mol Gen2004,13,8:1
16Structttral variants : changing the landscape of chromosomes and design of disease studies 显示文摘Feuk Lars Marshall Christian R Wintle RF 2006Human Mol Gen2006,15,:1
17PTEN regulates phospholipase D and phospholipase C显示文摘Breckenridge CA Waite KA Eng C 2007Human Mol Gen2007,16,:1
18Genetic ablation of dicer in adult forebrain neurons results in abnormal tau hyperphosphorylation and neurodegeneration 显示文摘H'ebert S Papadopoulou AS Smith P 2010Human Mol Gen2010,19,:1
19Age related changes in 5-methylcytosine content in human peripheral leukocytes and placentas: an HPLC-based study显示文摘Fuke C Shimabukuru M Petronis A 2004Ann Human Gen2004,68,:1
20BACE knock out mice are healthy despite lacking the primary beta-secrerase activity in brain:implication for Alzheimer's disease therpeutics显示文摘ROBERDS S L ANDERSON J BASI G 2001Human Mol Gen2001,10,12:1
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