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| 1 | Dysferlin is a plasma membrane protein and is expressed early in human development显示文摘 | Anderson LVB Davison K Moss JA | 1999 | Hum Mol Gen1999，8，： | 1 |
| 2 | Relative contri- bution of variation within the APOCa/A4/A5 gene cluster in determining plasma triglycerides显示文摘 | Talmud P J Hawe E Martin S | 2002 | Hum Mol Gen2002，24，11： | 1 |
| 3 | Upregulation of the transcription factor TFEB in t ( 6; 11 ) ( p21 ; q13 )- positive renal cell carcinomas due to promoter substitution 显示文摘 | Kuiper RP Schepens M Thijssen J | 2003 | Hum Mol Gen2003，12，14： | 1 |
| 4 | Spastin,the protein mutated in autosomal dominant hereditary spastic paraplegia,is inuolved in microtublue dynamics显示文摘 | Errico A Ballabio A rugarli EI | 2002 | Hum Mol Gen2002，11，： | 1 |
| 5 | Single-nueleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-seereted adiponeetin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians 显示文摘 | Vasseur F Helbecque N Dina C | 2002 | Hum Mol Gen2002，11，21： | 1 |
| 6 | The expression of a new variant of the pro-apoptotic molecule Bax, Baxpsi, is correlated with an increased survival of glioblastoma multiforme patients显示文摘 | Cartron P F Oliver L Martin S Moreau C LeCabellec M T Jezequel P | 2002 | Hum Mol Gen et2002，11，： | 1 |
| 7 | Lack of replication of as- sociation between GIGYF2 variants and Parkinson disease 显示文摘 | Bras J Simon-Sanchez J Federoff M | 2009 | Hum Mol Gen2009，18，： | 1 |
| 8 | Conditional deletion of Ccm2 causes hemorrhage in the adult brain: a mouse model of human cerebral cavernous malformations显示文摘 | Cunningham K Uchida Y O'Donnell E | 2011 | Hum Mol Gen2011，20，： | 1 |
| 9 | Lack of replication of as- sociation between GIGYF2 variants and Parkinson disease显示文摘 | Bras J Simon-Sanchez J Federoff M | 2009 | Hum Mol Gen2009，18，： | 1 |
| 10 | Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis 显示文摘 | Brown M Edwards S Hoyle E | 2000 | Hum Mol Gen2000，9，： | 1 |
| 11 | Mutation spectrum and genotype-phenotype analyses in Cowden Disease and Banayant-Zonana Syndrome, 2 hamartoma syndromes with germline PTEN mutation显示文摘 | Marsh DJ Coulon V Lunetta KL | 1998 | Hum Mol Gen 19981998，3，： | 1 |
| 12 | Altered proteaso-mal function due to the expression of polyglutamine-expanded trun-cated N-terminal huntingtin induces apoptosis by caspase activationthrough mitochondrial cytochrome c release显示文摘 | JANA NR ZEMSKOV EA WANG GH | 2001 | Hum Mol Gen2001，10，10： | 1 |
| 13 | The Chareot - Marie - Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system显示文摘 | Pich S Bach D Briones P | 2005 | Hum Mol Gen2005，14，： | 1 |
| 14 | Genetic basis for individual variations in pain perception and the devel?opment of chronic pain condition显示文摘 | Diatchenko L Slade GD Nackley AG | 2005 | Hum Mol Gen2005，14，1： | 1 |
| 15 | TBX1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways显示文摘 | Vitelli | 2002 | Hum Mol Gen2002，11，8： | 1 |
| 16 | Age-dependent accumu lation of mtDNA mutations in murine hematopoietic stem cells is modulated by the nuclear genetic baekground显示文摘 | Yao Y G Ellison F M McCoy J P | 2007 | Hum Mol Gen et2007，16，3： | 1 |
| 17 | Aberrant actin cytoskeleton leads to accelerated proliferation of corneal corneal epithelial cells in mice deficient for deet, 2003, depolymerizing factor)显示文摘 | Ikeda S Cunningham LA Boggess D | 2003 | Hum Mol Gen2003，12，： | 1 |
| 18 | Structure and sequence variation at the human leptin receptor gene in lean and obese pima indi ans显示文摘 | Ravussin E Bennett PH | 1997 | Hum Mol Gen1997，6，67： | 1 |
| 19 | Structure and se-quence variation at the human leptin receptor gene in lean andobese Pima Indians显示文摘 | Thompson DB Ravussin E Bennett PH | 1997 | Hum Mol Gen1997，6，6： | 1 |
| 20 | Mitochondrial DNA vari- ants can mediate methylafion status of inflammation, angiogen- esis and signaling genes 显示文摘 | Atilano SR Malik D Chwa M | 2015 | Hum Mol Gen2015，，： | 1 |
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