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52篇 您的检索式：期刊名="HumMutat"

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	题名	作者	年代	出处	被引量
1	PRRT2 mutationsare the major cause of benign familial infantile seizures显示文摘	Schubert J Paravidino R Becker F	2012	HumMutat2012，33，：	1
2	Mutationspectrum in children with primary hemophagocytic lym-phohistiocytosis:Molecular and functional analyses ofPRF1,UNC13D,STX11,and RAB27A显示文摘	Zur Stadt U Beutel K Kolberg S	2006	HumMutat2006，27，：	1
3	Mutationsand polymorphisms in the proprotein convertase subtilisin kexin 9(PCSK9) gene in cholesterol metabolism and disease显示文摘	ABIFADEL M RAB^S J P DEVILLEHS M	2009	HumMutat2009，30，4：	1
4	ADAMTS13 mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura显示文摘	Lotta L A Garagiola I Palla R	2010	HumMutat2010，31，1：	1
5	The intemational dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations 显示文摘	van den Akker PC Jonkman MF Rengaw T	2011	HumMutat2011，32，10：	1
6	the mutational spectrum of human autosomal tetranudeotide microsatellites显示文摘	Leopoldino AM Pena SD	2003	HumMutat2003，21，1：	1
7	wKinMut-2: identification andinterpretation of pathogenic variants in human protein kinases 显示文摘	Vazquez M Pons T Brunak S	2016	HumMutat2016，37，1：	1
8	Trimethylaminuria and a human FMO3 mutation database 显示文摘	HERNANDEZ D ADDOU S PHILLIPS I R	2003	HumMutat2003，22，3：	1
9	High2throughput multiplex SNP genotyping with MALDI2TOF mass spectrometry: practice, problems and promise显示文摘	Brayms Boerwimk Dorispa	2001	HumMutat2001，17，4：	1
10	High-resolution melting analysis(HRMA) : more than just sequence variant screen- ing 显示文摘	Vossen R H Atcn E Roose A	2009	Hummutat2009，30，6：	1
11	Tp53and breast cancer显示文摘	Borresen-Dale AL	2003	HumMutat2003，21，：	1
12	Review andupdate of mutations causing Waardenburg syndrome 显示文摘	Pingault V Ente D Dastot-Le Moal F	2010	HumMutat2010，31，4：	1
13	(ATT) Trinucleotlde repeats in the antithrombin gene and their use in determining the origin of repeated mutations显示文摘	Olds R J Lane D A Chowdury V	2005	HumMutat2005，4，：	1
14	Spectrum ofmutations in mut methylmalonic acidemia and identificationof a common Hispanic mutation and haplotype 显示文摘	Worgan LC Niles K Tirone JC	2006	HumMutat2006，27，1：	1
15	PAR1 dele- tions downstream of SHOX are the most frequent defect in a spanish cohort of Leri-Weill dyschondrosteosis ( LWD ) probands显示文摘	Benito Sanz S Del B D Aza-Carmona M	2006	HumMutat2006，27，10：	1
16	Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARKT, and LRRK2 genes: a mutation update显示文摘	Nuytemans K Theuns J Cruts M	2010	HumMutat2010，31，7：	1
17	Frameshiftmutationatcodon642ofthehMLH1geneinhumanendometrialcancer显示文摘	FukushigeS WakatsukiS NagaseS etal	1996	HumMutat1996，8，4：	1
18	Identification of mutations in the connexin26 gene that cause autosomal recessive nonsyndromic hearing loss显示文摘	Scott DA Kraft ML Carmi R	1998	HumMutat1998，11，38：	1
19	The androgen receptor gene mutations database (ARDB): 2004 up- date显示文摘	Gottlieb B Beitel L K Wu J H	2004	HumMutat2004，23，：	1
20	Molecular Pa-thology of the Fibroblast Growth Factor Family 显示文摘	Krejci P Prochazkova J Wilcox WR	2009	HumMutat2009，30，9：	1

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