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44篇 您的检索式:期刊名="Hum Cenet"
    题名 作者 年代 出处 被引量
1Contrasting effects on HIF-lalpha regulation by disease-cansing pVHL mutations correlate with pattern of tumorigenesis in yon Hippel-Lindau disease显示文摘Clifford SC Cokman ME Smallwood AC 2001Hum Mol Cenet2001,10,10:1
2Human osteoc-Jast- poor osteopetrosis with hypogammaglobulinemia due to TNFRSFIIA(RANK)mutations显示文摘Guerrini MM Sobacchi C Cassani B 2008Am J Hum Cenet2008,83,:1
3Genetic diversi-ty of the fragile X syndrome gene(FMRl) in a large Sub-Saharan West African population显示文摘Peprah EK Allen EG Williams SM 2010Ann Hum Cenet2010,74,4:1
4Evidence,form combined segregation and linkage analysis,that a variant of the angiotensin 1-converting enzyme(ACE)gene controls plasma ACE levels显示文摘Tiret L Rigat B Visvikis S 1992Am J Hum Cenet1992,51,:1
5The retinitis pigmentosa protein RP2 links pericentrio]ar vesicle transport between the Golgi and the primary cilium显示文摘Evans RJ Schwarz N Nagel-Wolfrum K 2010Hum Mol Cenet2010,19,7:1
6Microsatellitepolymorphism in the heine oxygenase-1 gene promoter is associated with suscepfibilityto emphysema显示文摘Norihlro Y Yamaya M Okinaga S 2000Hum Cenet2000,66,:1
7C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon 显示文摘Choe CU Schulze-Bahr E Neu A 2006Hum Mol Cenet2006,15,19:1
8Mutations in connexin31 underlie re- cessive as well as dominant non - syndromie heating loss 显示文摘Liu XZ Xia XJ Xu LR 2000Hum Mol Cenet2000,9,:1
9Construction of a genetic linkage map in man using restriction fragment polymorphism 显示文摘BOSTEIN D WHITE R L SKOLNICKM 1980Am J Hum Cenet1980,32,:1
10Association of warfarin dose with genes involved in its action and metabolism显示文摘Wadelius M Chen L Y Erikssbn N 2007Hum Cenet2007,121,1:1
11Epigenetic reprogrammingin mammals显示文摘Morgan HD Santos F Green K 2005Hum MoI Cenet2005,14,:1
12Prenatal diagnosis of ornitldnetranearhamylase(OTC)deficiency by using single nucleated erythrocyte from maternal blood显示文摘Watanabc A Sekizaua A 1998Hum Cenet1998,102,6:1
13Gene symbol : PANK2 disease : Pantothen- ate kinase associated neurodegeneration (PANK) 显示文摘Wieczorek SW Epplen JT 2005Hum Cenet2005,116,6:1
14Finetuning in Ca2 + homeostasis underlies progyession of eardiomyopathy in myocytes derived from genetically, modified embryonic stem cells 显示文摘Gty C Mey A Puleat M 2005Hum Mol Cenet2005,14,10:1
15Structural stability and chromosome-specific telomere length is governed by cis acting determinants in humans显示文摘Britt compton B Rowson J Locke M 2006Hum Mol Cenet2006,,15:1
16Cenome scan for loci involved in cleft lip with or without cleft palate, in Chinese multiplex families显示文摘Marazita ML Field LL Cooper ME 2002Am J Hum Cenet2002,71,2:1
17Mutations in connexin3 underlie recessive as well as dominant non syndromic heating loss显示文摘Liu XZ Xia XJ Xu LR 2000Hum Mol Cenet2000,9,:1
18ZNF217 suppresses cell death as- sociated with chemotherapy and telomere dysfunction显示文摘Hung G Krig S Kowbel D 2005Hum Mol Cenet2005,14,21:1
19Identification of a KCNE2 gain of function mutation in patients with familial atrial fibrillation显示文摘Yang Yi Qing Xia Min 2004Am J Hum Cenet2004,75,5:1
20Cloning and developmental expression analysis of chick Hira (Chira), a candidate gene for DiC, eorge syndrome 显示文摘Roberts C Daw S C Halford S 1997Hum Mol Cenet1997,6,2:1
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