Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch SyndromeSuzuki, O.T. ; Sertié, A.L. ; Der Kaloustian, V.M. ; Kok, F. ; Carpenter, M. ; Murray, J. ; Czeizel, A.E. ; Kliemann, S.E. ; Rosemberg, S. ; Monteiro, M. ; Olsen, B.R. ; Passos-Bueno, M.R.American journal of human genetics, 2002-12, Vol.71 (6), p.1320-1329 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo de Congresso
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Partial 'alfa'-sarcoglycan ('alfa'-SG) deficiency associated with the retention of the SG complex in a LGMD2D familyMariz Vainzof E S Moreira; M Canovas; Oscar T Suzuki; Rita de Cássia M Pavanello; Maria Rita Passos-Bueno; Mayana Zatz; American Society of Human Genetics (49. 1999 San Francisco)American Journal of Human Genetics Baltimore v. 65, n. 4, suppl., res.2815, oct. 1999San Francisco 1999Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndromeOscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-BuenoAmerican Journal of Human Genetics v. 71, p. 1320-1329, 2002Baltimore 2002Item não circula. Consulte sua biblioteca.(Acessar) |
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4 |
Material Type: Artigo
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Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndromeOscar T. Suzuki Andréa Laurato Sertié; Vazken M Der Kaloustian; Fernando Kok; M Carpenter; J Murray; A E Czeizel; Susana E Kliemann; Sérgio Rosemberg; M Monteiro; Bjorn Reino Olsen; Maria Rita Passos-BuenoAmerican Journal of Human Genetics v. 71, p. 1320-1329, 2002Baltimore 2002Item não circula. Consulte sua biblioteca.(Acessar) |
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5 |
Material Type: Artigo
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Mutations of the RNA-Specific Adenosine Deaminase Gene (DSRAD) Are Involved in Dyschromatosis Symmetrica HereditariaMiyamura, Yoshinori ; Suzuki, Tamio ; Kono, Michihiro ; Inagaki, Katsuhiko ; Ito, Shiro ; Suzuki, Noriyuki ; Tomita, YasushiAmerican journal of human genetics, 2003-09, Vol.73 (3), p.693-699 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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Mutation in TRMU Related to Transfer RNA Modification Modulates the Phenotypic Expression of the Deafness-Associated Mitochondrial 12S Ribosomal RNA MutationsGuan, Min-Xin ; Yan, Qingfeng ; Li, Xiaoming ; Bykhovskaya, Yelena ; Gallo-Teran, Jaime ; Hajek, Petr ; Umeda, Noriko ; Zhao, Hui ; Garrido, Gema ; Mengesha, Emebet ; Suzuki, Tsutomu ; Castillo, Ignacio del ; Peters, Jennifer Lynne ; Li, Ronghua ; Qian, Yaping ; Wang, Xinjian ; Ballana, Ester ; Shohat, Mordechai ; Lu, Jianxin ; Estivill, Xavier ; Watanabe, Kimitsuna ; Fischel-Ghodsian, NathanAmerican journal of human genetics, 2006-08, Vol.79 (2), p.291-302 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Oculocutaneous Albinism Type 4 Is One of the Most Common Types of Albinism in JapanInagaki, Katsuhiko ; Suzuki, Tamio ; Shimizu, Hiroshi ; Ishii, Norihisa ; Umezawa, Yoshinori ; Tada, Joji ; Kikuchi, Noriaki ; Takata, Minoru ; Takamori, Kenji ; Kishibe, Mari ; Tanaka, Michi ; Miyamura, Yoshinori ; Ito, Shiro ; Tomita, YasushiAmerican journal of human genetics, 2004-03, Vol.74 (3), p.466-471 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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8 |
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 |
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9 |
Material Type: Artigo
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Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosisSaito, Sonoko ; Saito, Yuki ; Sato, Showbu ; Aoki, Satomi ; Fujita, Harumi ; Ito, Yoshihiro ; Ono, Noriko ; Funakoshi, Takeru ; Kawai, Tomoko ; Suzuki, Hisato ; Sasaki, Takashi ; Tanaka, Tomoyo ; Inoie, Masukazu ; Hata, Kenichiro ; Kataoka, Keisuke ; Kosaki, Kenjiro ; Amagai, Masayuki ; Nakabayashi, Kazuhiko ; Kubo, AkiharuAmerican journal of human genetics, 2024-05, Vol.111 (5), p.896-912 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Studies on familial hypotransferrinemia : unique clinical course and molecular pathologyHAYASHI, A ; WADA, Y ; SUZUKI, T ; SHIMIZU, AAmerican journal of human genetics, 1993-07, Vol.53 (1), p.201-213 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |