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	题名	作者	年代	出处	被引量
1	Abnormal mRNA splicingresulting from consensus sequence splicing mutations of ATPTB显示文摘	Loudianos G Lovicu M Dessi V	2002	Hum Murat2002，20，4：	1
2	Fluorescent microsphere-based readout technology for multiplexed human single nueleotide polymorphism analysis and bacterial identification 显示文摘	Ye F Li M S Taylor J D	2001	Hum Murat2001，17，4：	1
3	Seven novel point mulations in the uroporphyrinogen decarboxylase (UROD) gene in patients with familial porphyria cutanea larda (f-PCT) 显示文摘	Cappellini MD Martinez di Montemuros F Tavazzi D	2001	Hum Murat2001，17，4：	1
4	A novel mutation L619F in the cardiac Na^+ channel SCNSA associated with long-QT syndrome (LQT3) :a role for the Ⅰ-Ⅱ linker in inactivation gating显示文摘	Wehrens XH Rossenbacker T Jongbloed RJ	2003	Hum Murat2003，21，5：	1
5	Denaturing high-performance liquid chromatography:a review显示文摘	Xiao W Oefner P J	2001	Hum Murat2001，17，6：	1
6	Variations of the human glucocorticoid receptor gene (NR3C1) :Pathological and in vitro mutations and polymorphisms 显示文摘	Bray PJ Cotton RG	2003	Hum Murat2003，21，6：	1
7	The infevers autoinflammatory mutation online registry:update with new genes and functions 显示文摘	Milhavet F Cuisset L Hoffman HM	2008	Hum Murat2008，29，6：	1
8	Identification of novel RP2 mutations in a subset of X-linked retilfitis pigmentosa families and prediction of new domains 显示文摘	Miano MG Testa F Filippini F Trujifio M Conte I Lanzara C	2001	Hum Murat2001，18，2：	1
9	Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLIA in human hepatocellular carcinoma显示文摘	Saigo K Yoshida K Ikeda R	2008	Hum Murat2008，29，5：	1
10	Identification of nine novel arylsulfatase A (ARSA) gene mutations in patients with metaehromatic leukodystruphy (MLD)显示文摘	Eng B Nakamura LN O' Reilly N	2003	Hum Murat2003，22，：	1
11	The contribution of genes involved in potassium-recycling in the inner ear to noise-induced hearing loss显示文摘	Van Laer L Carlsson PI Ottschytsch N	2006	Hum Murat2006，27，：	1
12	Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily 显示文摘	Bochukova EG Roscioli T Hedges D J	2009	Hum Murat2009，30，2：	1
13	Novel mutations of the growth hormone 1 ( GH1 ) gene disclosed by modulation of the clinical selection criteria for individuals with short stature 显示文摘	MILLAR D S LEWIS M D HORAN M	2003	Hum Murat2003，21，：	1
14	New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations显示文摘	Callewaeert B Renard M Hucthagowder V	2011	Hum Murat2011，32，4：	1
15	Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics 显示文摘	Cooper DN Chen JM Ball EV	2010	Hum Murat2010，31，6：	1
16	Clinical variabiSil) and novel mutations in the NHEJ1 gene in patients with a Nijtnegen breakage syndrome-like phenntype 显示文摘	Dutrannoy V Demuth l Baumann U el a\|	2010	Hum Murat2010，31，9：	1
17	Impact of mutant p53 functional properties on TP53 mutation patterns and tumor phenotype: lessons from recent developments in the IARC TP53 database 显示文摘	Petitjean A Mathe E Kato S	2007	Hum Murat2007，28，6：	1
18	Genetic and biochemical analysis of Israeli osteogenesis imperfecta patients显示文摘	Ries-Levavi L Ish-Shalom T Frydman M	2004	Hum Murat2004，23，4：	1
19	Fluorescent mierosphere based readout technology for multiplexed human single nucieotide polymorphism analysis and bacterial identification显示文摘	Ye F Li M S Taylor J D	2001	Hum Murat2001，17，4：	1
20	Molecular diversity and thrombotic risk in protein S deficiency:the PROSIT study显示文摘	Razzari C Lane DA	2005	Hum Murat2005，25，3：	1

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