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	题名	作者	年代	出处	被引量
1	Tumor suppres- sive micreRNA-375 regulates oncogene AEG-1/MTDH in head and neck squamous cell carcinoma ( HNSCC ) 显示文摘	Nohata N Hanazawa T Kikkawa N	2011	JHum Genet2011，56，8：	1
2	The distinction between ju-venile and adult-onset primary open-angle glaucoma显示文摘	Wiggs JL Damji KF Haines JL	1996	Am JHum Genet1996，58，1：	1
3	Mutation spectrumof the dystrophin gene in 442 Duchenne/Becker musculardystrophy cases from one Japanese referral center 显示文摘	Takeshima Y Yagi M Okizuka Y	2010	JHum Genet2010，55，：	1
4	X-linkedmental retardation and autism are associated with a mutation inthe NLGN4 Gene, a member of the neuroligin family显示文摘	Laumonnier F Bonnet-Brilhault F Gomot M	2004	Am JHum Genet2004，74，3：	1
5	PKHD 1,the polycystic kidney and hepatic disease 1 gene,encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription- factor domains and parallel beta -helix 1 repeats显示文摘	Onuchic LF Fum L Nagasawa Y	2002	Am JHum Genet2002，70，5：	1
6	Major genes regulating totalserum immunoglobulin E levels in families with asthma显示文摘	XuJ Postma DS Howard TD	2000	Am JHum Genet2000，67，5：	1
7	Rapiddirect sequence analysis of the dystrophin gene显示文摘	Flanigan KM von Niederhausern A Dunn DM ei al	2003	Am JHum Genet2003，72，：	1
8	DNA variations in human and medical genetics:25 years of my experience显示文摘	Nakamura Y	2009	JHum Genet2009，54，：	1
9	The deficiency of PIP2 5-phospha-tase in Lowe syndrome affects actin polymerization 显示文摘	Suchy SF Nussbaum RL	2002	Am JHum Genet2002，71，6：	1
10	Gem-cell nondis- junction in testesbiopsies of men with idiopathic infer- tility显示文摘	Huang WJ Lamb DJ Kim ED	1999	Am JHum Genet1999，64，6：	1
11	Genetic determination of te-lomere sizes in humans: a twin study of three age groups显示文摘	Slagboom PE Droog S Boomsma DI	1994	Am JHum Genet1994，55，5：	1
12	1 Construction ofa genet linkagemap in man using restriction fragment length polymorphism 显示文摘	Botstein D WhiteR L SkolnickM eta	1980	Am JHum Genet1980，32，：	1
13	Strategies for the rapid prenatal diagnosis of chromosome aneuploidy 显示文摘	Mann K Donaghue Cm Fox SP	2004	Eur Jhum Genet2004，12，1：	1
14	The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup 显示文摘	BROWN M D STARIKOVSKAYA E DERBENEVA O	2002	JHum genet2002，110，2：	1
15	DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib - polydactyly syndrome, type Ⅲ显示文摘	Dagoneau N Goulet M Genevieve D	2009	Am JHum Genet2009，84，5：	1
16	3f -UTR variations and G6PD deficiency 显示文摘	Amini F Ismail E	2013	JHum Genet2013，58，4：	1
17	Cys611Ser mu-tation in RET proto-oncogene in a kindred with medullarythyroid carcinoma and Hirschsprung's disease 显示文摘	Nishikawa M Murakumo Y Imai T	2003	Eur JHum Genet2003，11，5：	1
18	Genetic polymorphism of RhD-negative associated haplotypes in Chinese 显示文摘	Lan JC Chen Q Wu DL	2000	JHum Genet2000，45，：	1
19	Genetic assoCiation of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE显示文摘	Kyogoku C Langefeld CD Ortmann WA	2004	Am JHum Genet2004，75，3：	1
20	Analysis of the genotypes and phenotypes of 37 unre-lated patients with inherited factor VI deficiency显示文摘	Giansily-Blaizot M Aguilar-Martinez P Biron-Andreani C	2001	Eur JHum Genet2001，9，2：	1

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