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1 |
Material Type: Artigo
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Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid ArthritisOkada, Yukinori ; Suzuki, Akari ; Ikari, Katsunori ; Terao, Chikashi ; Kochi, Yuta ; Ohmura, Koichiro ; Higasa, Koichiro ; Akiyama, Masato ; Ashikawa, Kyota ; Kanai, Masahiro ; Hirata, Jun ; Suita, Naomasa ; Teo, Yik-Ying ; Xu, Huji ; Bae, Sang-Cheol ; Takahashi, Atsushi ; Momozawa, Yukihide ; Matsuda, Koichi ; Momohara, Shigeki ; Taniguchi, Atsuo ; Yamada, Ryo ; Mimori, Tsuneyo ; Kubo, Michiaki ; Brown, Matthew A. ; Raychaudhuri, Soumya ; Matsuda, Fumihiko ; Yamanaka, Hisashi ; Kamatani, Yoichiro ; Yamamoto, KazuhikoAmerican journal of human genetics, 2016-08, Vol.99 (2), p.366-374 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
2 |
Material Type: Artigo
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Mutations in the Tight-Junction Gene Claudin 19 ( CLDN19) Are Associated with Renal Magnesium Wasting, Renal Failure, and Severe Ocular InvolvementKonrad, Martin ; Schaller, André ; Seelow, Dominik ; Pandey, Amit V. ; Waldegger, Siegfried ; Lesslauer, Annegret ; Vitzthum, Helga ; Suzuki, Yoshiro ; Luk, John M. ; Becker, Christian ; Schlingmann, Karl P. ; Schmid, Marcel ; Rodriguez-Soriano, Juan ; Ariceta, Gema ; Cano, Francisco ; Enriquez, Ricardo ; Jüppner, Harald ; Bakkaloglu, Sevcan A. ; Hediger, Matthias A. ; Gallati, Sabina ; Neuhauss, Stephan C.F. ; Nürnberg, Peter ; Weber, StefanieAmerican journal of human genetics, 2006-11, Vol.79 (5), p.949-957 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in BMP4 Are Associated with Subepithelial, Microform, and Overt Cleft LipSuzuki, Satoshi ; Marazita, Mary L. ; Cooper, Margaret E. ; Miwa, Nobutomo ; Hing, Anne ; Jugessur, Astanand ; Natsume, Nagato ; Shimozato, Kazuo ; Ohbayashi, Naofumi ; Suzuki, Yasushi ; Niimi, Teruyuki ; Minami, Katsuhiro ; Yamamoto, Masahiko ; Altannamar, Tserendorj J. ; Erkhembaatar, Tudevdorj ; Furukawa, Hiroo ; Daack-Hirsch, Sandra ; L'Heureux, Jamie ; Brandon, Carla A. ; Weinberg, Seth M. ; Neiswanger, Katherine ; Deleyiannis, Frederic W.B. ; de Salamanca, Javier E. ; Vieira, Alexandre R. ; Lidral, Andrew C. ; Martin, James F. ; Murray, Jeffrey C.American journal of human genetics, 2009-03, Vol.84 (3), p.406-411 [Periódico revisado por pares]Cambridge, MA: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Mutations in PCYT1A Cause Spondylometaphyseal Dysplasia with Cone-Rod DystrophyYamamoto, Guilherme L. ; Baratela, Wagner A.R. ; Almeida, Tatiana F. ; Lazar, Monize ; Afonso, Clara L. ; Oyamada, Maria K. ; Suzuki, Lisa ; Oliveira, Luiz A.N. ; Ramos, Ester S. ; Kim, Chong A. ; Passos-Bueno, Maria Rita ; Bertola, Débora R.American journal of human genetics, 2014-01, Vol.94 (1), p.113-119 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
5 |
Material Type: Artigo
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Human β-galactosidase gene mutations in GM1-gangliosidosis : a common mutation among japanese adult/chronic casesYOSHIDA, K ; OSHIMA, A ; SHIMMOTO, M ; FUKUHARA, Y ; SAKURABA, H ; YANAGISAWA, N ; SUZUKI, YAmerican journal of human genetics, 1991-08, Vol.49 (2), p.435-442 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
6 |
Material Type: Artigo
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Identification of point mutations in the α-galactosidase A gene in classical and atypical hemizygotes with Fabry diseaseSAKURABA, H ; OSHIMA, A ; FUKUHARA, Y ; SHIMMOTO, M ; NAGAO, Y ; BISHOP, D. F ; DESNICK, R. J ; SUZUKI, YAmerican journal of human genetics, 1990-11, Vol.47 (5), p.784-789 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
7 |
Material Type: Artigo
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Human beta-galactosidase gene mutations in morquio B diseaseOshima, A ; Yoshida, K ; Shimmoto, M ; Fukuhara, Y ; Sakuraba, H ; Suzuki, YAmerican journal of human genetics, 1991-11, Vol.49 (5), p.1091-1093 [Periódico revisado por pares]United StatesTexto completo disponível |
8 |
Material Type: Artigo
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A new point mutation in the beta-hexosaminidase alpha subunit gene responsible for infantile Tay-Sachs disease in a non-Jewish Caucasian patient (a Kpn mutant)Tanaka, A ; Punnett, H H ; Suzuki, KAmerican journal of human genetics, 1990-09, Vol.47 (3), p.568-574 [Periódico revisado por pares]United StatesTexto completo disponível |
9 |
Material Type: Artigo
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Mutations in acid beta -galactosidase cause GM sub(1)-gangliosidosis in American patientsBoustany, R-M ; Qian, W-H ; Suzuki, KAmerican journal of human genetics, 1993-01, Vol.53 (4), p.881-888 [Periódico revisado por pares]Texto completo disponível |
10 |
Material Type: Artigo
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A new point mutation in the β-hexosaminidase α subunit gene responsible for infantile tay-sachs disease in a non-jewish caucasian patient (a Kpn mutant)TANAKA, A ; PUNNETT, H. P ; SUZUKI, KAmerican journal of human genetics, 1990-09, Vol.47 (3), p.567-574 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |