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	题名	作者	年代	出处	被引量
1	A new glucose-6 phosphate dehydrogenase variant, G6PD Orissa (44 AlaGly), is the major polymorphie variant in tribal populations in India 显示文摘	Kaeda JS Chhotray GP Ranjit MR	1995	AmJ HumGenet1995，57，6：	1
2	Two loci on chromosomes 2 and X for premature coronary heart disease identified in early- and late-settlement populations of Finland 显示文摘	Pajukanta P Cargill M Viitanen L	2000	AmJ HumGenet2000，67，6：	1
3	Axonemal Dynein intermediate-Chain Gene (DNAI1) Mutations Result in Situs In- versus and Primary Ciliary Dyskinesia (Kartagener Syndrome) 显示文摘	Guiehard C Harrieane M C Lafitte J J	2001	AmJ HumGenet2001，68，4：	1
4	Homocysteine metabolism in children with Down syndrome: in vitro modulation 显示文摘	Pogribna M Melnyk S Pogribny I	2001	AmJ HumGenet2001，69，：	1
5	Evaluation of 13 short tandem repeat loci for use in personal identification applications 显示文摘	Jin L Zhong Y	1994	AmJ HumGenet1994，55，1：	1
6	The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 1 1q12- q14, with evidence for genetic heterogeneity within thissubtype显示文摘	Hart PE Warner TT	2001	AmJ HumGenet2001，69，1：	1
7	Characteristics and frequency of germline mu-tation at microsatellite loci from the human Y chromosome, as revealed by direct observation in fa ther/son pairs 显示文摘	Roewer L Hedman M	2000	AmJ HumGenet2000，66，：	1
8	Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA 显示文摘	Horai S Hayasaka K	1990	AmJ HumGenet1990，46，：	1
9	Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 显示文摘	Szepetowski P Rochette J Berquin P	1997	AmJ HumGenet1997，61，：	1
10	Nuclear and mitochondrial DNA analysis of a 2,000-year-old necropolis in the egyin gol valley of mongolia显示文摘	Christine KT Eric C Bertrand L	2003	AmJ HumGenet2003，73，：	1
11	Consensus statement: chromosomal mieroarray is a first tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies 显示文摘	Miller DT Adam MP Aradhya S	2010	AmJ HumGenet2010，86，5：	1
12	Autosomal recessive familial exudative vitreoretinopathy is associated with mutation in LRP5显示文摘	Jiao X Ventruto V Trese MT	2004	AmJ HumGenet2004，75，：	1
13	Population analysis of large copy number variants and hotspots of human genetic disease 显示文摘	ItsaraA Cooper GM Baker C etal	2009	AmJ HumGenet2009，84，2：	1
14	Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4显示文摘	Bondurand N Dastot-Le MF Stanchina L	2007	AmJ HumGenet2007，81，6：	1
15	A chromosomal duplication map of malformations: regions of suspected haplo and triplolethality and tolerance of segmental aneuploidy in hu- mans显示文摘	Brewer C Holloway S Zawalnyski P	2013	AmJ HumGenet2013，64，6：	1
16	Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortieal cysts显示文摘	Leegwater PA Yuan BQ van der Steen J	2001	AmJ HumGenet2001，68，4：	1
17	Length heteroplasmy in the first hy pervariable segment of the human mtDNA contral region 显示文摘	Sykes BC	1995	AmJ HumGenet1995，57，：	1
18	Mechanisms and consequences of small supernumerary marker chromosomes: from Barbara McClintoek to modern genetic counseling issues 显示文摘	Baldwin EL May LF Justice AN	2008	AmJ HumGenet2008，82，2：	1
19	Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms显示文摘	Clemens PR Fenwick RG Chamberlain JS	1991	AmJ HumGenet1991，49，：	1
20	Characteristics and frequency of germline mutations at microsatellite loci from the human Y chromosome,as revealed by direct observation in father/son pairs显示文摘	Kayser M Roewer L Hedman M	2000	AmJ HumGenet2000，66，：	1

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