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281篇 您的检索式：期刊名="Human Mutation"

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	题名	作者	年代	出处	被引量
1	Exome Resequencing Identifies Potential Tumor‐Suppressor Genes that Predispose to Colorectal Cancer显示文摘	Christopher G. Smith Marc Naven Rebecca Harris James Colley Hannah West Ning Li Yuan Liu Richard Adams Timothy S. Maughan Laura Nichols Richard Kaplan Michael J. Wagner Howard L. McLeod Jeremy P. Cheadle	2013	Human Mutation2013，，7：	2
2	Use of support vector machines for dis- ease risk prediction in genome - wide association studies : Concerns and opportunities显示文摘	Mittag F Saad M Jahn A	2012	Human Mutation2012，33，12：	1
3	SNPs, proteins stricter, and disease 显示文摘	Wang Z Moult J	2001	Human Mutation2001，17，4：	1
4	Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase 显示文摘	Roos D de Boer M Yavuz KM	2006	Human Mutation2006，27，12：	1
5	Identification and characterization of novel rare mutations in the pla- nar cell polarity gene PRICKLE1 in human neural tube defects 显示文摘	Bosoi C M Capra V Allache R	2011	Human Mutation2011，32，：	1
6	Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis:molecular and functional analyses of PRF1,UNC13D,STX11and RAB27A显示文摘	Zur Stadt U Beutel K Kolberg S	2006	Human Mutation2006，27，：	1
7	Review andupdate of mutations causing Waardenburg syndrome 显示文摘	Pingault V Ente D Dastot-Le Mod F	2010	Human Mutation2010，31，6：	1
8	The Alport syndrome COL4A 5 variant database显示文摘	CROCKETF D K PONT-KINGDON G GEDGE F	2010	Human Mutation2010，31，8：	1
9	Mutation in ribosomal pro-tein L21 underlies hereditary hypotrichosis simplex 显示文摘	Zhou C Zang D Jin Y	2011	Human Mutation2011，32，10：	1
10	GCK and HNF1 A mutations in Canadian families with maturity onset diabetes of the young(MODY) 显示文摘	Cao HN Shorey S Rpbinson J	2002	Human Mutation2002，20，6：	1
11	Genetic analysis of yon Hippel-Lindau disease 显示文摘	Nordstrom-O'Brien M van der Luijt RB van Rooijen E	2010	Human mutation2010，31，5：	1
12	Analysis of SNPs and other genomic variations using gel-based chips显示文摘	KOLCHINSKY A MIRZABEKOV A	2002	Human Mutation2002，19，：	1
13	Charcot-Marie-Tooth Disease with intermediate motor nerve conduction velocities:characterization of 14 Cx32 mutations in 35 families显示文摘	Rouger H LeGuern E Birouk N	1997	Human Mutation1997，10，：	1
14	SCN1A Mutations and Epilepsy 显示文摘	MULLEY J C SCHEFFER I E PETROU S	2005	Human Mutation2005，25，6：	1
15	Automation in genotyping of single nucleotide polymorphisms 显示文摘	Gut G	2001	Human mutation2001，17，6：	1
16	Mutations of the human Tyrosinase gene associated with Tyrosinase related oculocutaneous albinism (OCAI)显示文摘	Oetting W S Fryer J P King R A	1998	Human Mutation1998，12，6：	1
17	Molecular and muscle pathology in a series of caveolinopathy patients显示文摘	Fulizio L Nascimbeni A C Fanin M	2005	Human Mutation2005，25，1：	1
18	A Post‐Hoc Comparison of the Utility of S anger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases显示文摘	Kornelia Neveling Ilse Feenstra Christian Gilissen Lies H. Hoefsloot Erik‐Jan Kamsteeg Arjen R. Mensenkamp Richard J. T. Rodenburg Helger G. Yntema Liesbeth Spruijt Sascha Vermeer Tuula Rinne Koen L. Gassen Danielle Bodmer Dorien Lugtenberg Rick Reuver We	2013	Human Mutation2013，，12：	1
19	Microattribulion and nanopublication as means to incentivize the placement of human genome variation data into the public domain 显示文摘	Patrinos G P Cooper D N van Mulligen E	2012	Human mutation2012，33，11：	1
20	Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation显示文摘	Graf J Hodgson R Van Daal A	2005	Human mutation2005，25，3：	1

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