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收藏Mutational spectrum of MYO15A:: The large N-terminal extension of myosin XVA is required for hearingMYO15A的突变谱:: 听力需要肌球蛋白XVA的大N端延伸
Nal, Nevra; Ahmed, Zubair M.; Erkal, Engin; Alper, Oezguel M.; Lueleci, Gueven; Dinc, Oktay; Waryah, Ali Muhammad; Ain, Quratul; Tasneem, Saba; Husnain, Tayyab; Chattaraj, Parna; Riazuddin, Saima; Boger, Erich; Ghosh, Marju; Kabra, Madhulika; Riazuddin, Sheikh; Morell, Robert J.; Friedman, Thomas B.
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收藏Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
Mykytyn, K; Nishimura, DY; Searby, CC; Beck, G; Bugge, K; Haines, HL; Cornier, AS; Cox, GF; Fulton, AB; Carmi, R; Iannaccone, A; Jacobson, SG; Weleber, RG; Wright, AF; Riise, R; Hennekam, RCM; Lüleci, G; Berker-Karauzum, S; Biesecker, LG; Stone, EM; Sheffield, VC
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收藏Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
Mykytyn, K; Nishimura, DY; Searby, CC; Shastri, M; Yen, HJ; Beck, JS; Braun, T; Streb, LM; Cornier, AS; Cox, GF; Fulton, AB; Carmi, R; Lüleci, G; Chandrasekharappa, SC; Collins, FS; Jacobson, SG; Heckenlively, JR; Weleber, RG; Stone, EM; Sheffield, VC
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收藏Germline hMSH2 and hMLH1 gene mutations in incomplete HNPCC families
Wang, Q; Desseigne, F; Lasset, C; Saurin, JC; Navarro, C; Yagci, T; Keser, I; Bagci, H; Luleci, G; Gelen, T; Chayvialle, JA; Puisieux, A; Ozturk, M
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