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2199篇 您的检索式：期刊名="Hum mutation"

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	题名	作者	年代	出处	被引量
1	Differential MicroRNA expression tracks neoplastic progression in inflammatory bowel disease‐associated colorectal cancer显示文摘	ZiadKanaan Shesh N.Rai M. RobertEichenberger ChristopherBarnes Amy M.Dworkin ClaytonWeller EricCohen HenryRoberts BobbyKeskey Robert E.Petras Nigel P.S.Crawford SusanGalandiuk	2012	Hum Mutat2012，，3：	2
2	Pathogenic mutations in Parkinson disease 显示文摘	Tan EK Skipper LM	2007	Hum Mutat2007，28，7：	1
3	A clinical overview of WT1 gene mutations 显示文摘	Little M Wells C	1997	Hum Mutat1997，9，3：	1
4	Cystathionine beta-synthase deficiency in Georgia(USA) ; correlation of clinical and biochemical phenotype with genotype 显示文摘	Kruger W D Wang L Jhee Kee	2003	Hum Mutat2003，22，6：	1
5	Functional assays testing pathogenicity of 14 cystathionine- beta synthase mutations 显示文摘	Rurreizt IC Asteggiano M Cozar	2006	Hum Mutat2006，27，3：	1
6	Pendred syndrome,DFNB4,and PDS/SLC26A4 identification of eight novel mutation and possible genotype-phenotype correlations显示文摘	CAMPBELL C CUCCI R A PRASAD S	2001	Hum Mutat2001，17，：	1
7	A novel missense mu- tation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b显示文摘	Lam CW Chan KY Tong SF	2000	Hum Mutat2000，16，：	1
8	TP53 and liver carcino- genesis 显示文摘	Staib F Hussain SP Hofseth LJ	2003	Hum Mutat2003，21，3：	1
9	BRCA1 and BRCA2 sequence variants in Chinese breast cancer families显示文摘	Zhi X Szabo C Chopin S	2002	Hum Mutat2002，20，6：	1
10	Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Malays显示文摘	Ainoon O Yu YH Amir Muhfiz AL et a2	2003	Hum Mutat2003，21，1：	1
11	Denaturing high-performance liquid chromatography:A review显示文摘	Xiao W Oefner PJ	2001	Hum Mutat2001，17，6：	1
12	An osteopontin(SPP1)polymorphism is associated with systemic lupus erythcmatosus显示文摘	Forton AC Petri MA Goldman D	2002	Hum Mutat2002，19，4：	1
13	Twenty-Iwo novel mutations in Ihe lysosomal alpha-glucosidase gene ( GAA ) underscore the genoIype-phenoIype correlation in glycogen sIorage disease Iype Ⅱ 显示文摘	Hermans MM van Leenen D Kroos MA el al	2004	Hum Mutat2004，23，1：	1
14	Position of nonmuscle myosin heavy chain H A ( NMMHC- lI A) mutations predicts the natural his- tory of MYH9-related disease 显示文摘	Pecci A Panza E Pujol-Moix N	2008	Hum Mutat2008，29，3：	1
15	MYH9-Related Disease:A Novel Prognostic Model to Predict the Clinical Evolution of the Disease Based on Genotype-Phenotype Correlations 显示文摘	Peeci A Klersy C Gresele P	2014	Hum Mutat2014，35，：	1
16	Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations 显示文摘	Johnston J J Sapp JC Turner JT	2010	Hum Mutat2010，31，10：	1
17	Molecular spectrum of SLC22A5(OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine defciency显示文摘	Li FY E-Hattab AW Bawle EV	2010	Hum Mutat2010，31，8：	1
18	Mechanisticinsightsintothelinkbetweenapolymorphismofthe3'UTRoftheSLC7A1geneandhypertension显示文摘	Yang Z Kaye DM	2009	Hum Mutat2009，30，3：	1
19	Protein- and mRNA-based phenotype-genolype correlations in DMD/BMD with pointmutations and molecular basis for HMD with nonsense andframeshift mutations in the DMD gene显示文摘	Oeburgravc N Daoud F Llense S ut al	2007	Hum Mutat2007，28，2：	1
20	Functional characterization and classification of frequent low-density lipoprotein receptor variants 显示文摘	Etxebarria A Benito-Vicente A Palacios L	2015	Hum Mutat2015，36，1：	1

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