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1 |
Material Type: Artigo
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Allergic Rhinitis and its Impact on Asthma (ARIA) guidelines: 2010 RevisionBrożek, Jan L., MD, PhD ; Bousquet, Jean, MD, PhD ; Baena-Cagnani, Carlos E., MD ; Bonini, Sergio, MD ; Canonica, G. Walter, MD ; Casale, Thomas B., MD ; van Wijk, Roy Gerth, MD, PhD ; Ohta, Ken, MD, PhD ; Zuberbier, Torsten, MD ; Schünemann, Holger J., MD, PhD, MScJournal of allergy and clinical immunology, 2010-09, Vol.126 (3), p.466-476 [Periódico revisado por pares]New York, NY: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosisKaname, Tadashi ; Ki, Chang-Seok ; Niikawa, Norio ; Baillie, George S. ; Day, Jonathan P. ; Yamamura, Ken-ichi ; Ohta, Tohru ; Nishimura, Gen ; Mastuura, Nobuo ; Kim, Ok-Hwa ; Sohn, Young Bae ; Kim, Hyun Woo ; Cho, Sung Yoon ; Ko, Ah-Ra ; Lee, Jin Young ; Kim, Hyun Wook ; Ryu, Sung Ho ; Rhee, Hwanseok ; Yang, Kap-Seok ; Joo, Keehyoung ; Lee, Jooyoung ; Kim, Chi Hwa ; Cho, Kwang-Hyun ; Kim, Dongsan ; Yanagi, Kumiko ; Naritomi, Kenji ; Yoshiura, Ko-ichiro ; Kondoh, Tatsuro ; Nii, Eiji ; Tonoki, Hidefumi ; Houslay, Miles D. ; Jin, Dong-KyuCellular signalling, 2014-11, Vol.26 (11), p.2446-2459 [Periódico revisado por pares]England: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutationNakajima, Yoko ; Meijer, Judith ; Dobritzsch, Doreen ; Ito, Tetsuya ; Meinsma, Rutger ; Abeling, Nico G. G. M. ; Roelofsen, Jeroen ; Zoetekouw, Lida ; Watanabe, Yoriko ; Tashiro, Kyoko ; Lee, Tomoko ; Takeshima, Yasuhiro ; Mitsubuchi, Hiroshi ; Yoneyama, Akira ; Ohta, Kazuhide ; Eto, Kaoru ; Saito, Kayoko ; Kuhara, Tomiko ; van Kuilenburg, André B. P.Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.801-812 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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Imprinting-Mutation Mechanisms in Prader-Willi SyndromeOhta, T. ; Gray, T.A. ; Rogan, P.K. ; Buiting, K. ; Gabriel, J.M. ; Saitoh, S. ; Muralidhar, B. ; Bilienska, B. ; Krajewska-Walasek, M. ; Driscoll, D.J. ; Horsthemke, B. ; Butler, M.G. ; Nicholls, R.D.American journal of human genetics, 1999-02, Vol.64 (2), p.397-413 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Genotype-phenotype relationship of Niemann-Pick disease type C: a possible correlation between clinical onset and levels of NPC1 protein in isolated skin fibroblastsYAMAMOTO, TOSHIYUKI ; NINOMIYA, HARUAKI ; MATSUMOTO, MICHIKA ; OHTA, YASUTOSHI ; NANBA, EIJI ; TSUTSUMI, YUKIE ; YAMAKAWA, KAZUHIRO ; MILLAT, GILLES ; VANIER, MARIE T ; PENTCHEV, PETER G ; OHNO, KOUSAKUJournal of medical genetics, 2000-09, Vol.37 (9), p.707-712 [Periódico revisado por pares]England: BMJ Publishing Group LtdTexto completo disponível |
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Material Type: Artigo
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Development of posterior fossa dural sinuses, emissary veins, and jugular bulb: morphological and radiologic studyOkudera, T ; Huang, YP ; Ohta, T ; Yokota, A ; Nakamura, Y ; Maehara, F ; Utsunomiya, H ; Uemura, K ; Fukasawa, HAmerican journal of neuroradiology : AJNR, 1994-11, Vol.15 (10), p.1871-1883 [Periódico revisado por pares]Oak Brook, IL: Am Soc NeuroradiologyTexto completo disponível |
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Material Type: Artigo
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Genomic Organization and Structure of Bruton Agammaglobulinemia Tyrosine Kinase: Localization of Mutations Associated with Varied Clinical Presentations and Course in X Chromosome-Linked AgammaglobulinemiaOhta, Yuko ; Haire, Robert N. ; Litman, Ronda T. ; Fu, Shu Man ; Nelson, Robert P. ; Kratz, Jamie ; Kornfeld, Stephen J. ; de la Morena, Maite ; Good, Robert A. ; Litman, Gary W.Proceedings of the National Academy of Sciences - PNAS, 1994-09, Vol.91 (19), p.9062-9066 [Periódico revisado por pares]United States: National Academy of Sciences of the United States of AmericaTexto completo disponível |
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Material Type: Artigo
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Detection of myc Translocations in Lymphoma Cells by Fluorescence In Situ Hybridization With Yeast Artificial ChromosomesVeronese, Maria Luisa ; Ohta, Masataka ; Finan, Janet ; Nowell, Peter C. ; Croce, Carlo M.Blood, 1995-04, Vol.85 (8), p.2132-2138 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Morphometric evaluation of first sacral ganglia of manOhta, Michiya ; Offord, Kenneth ; Dyck, Peter JamesJournal of the neurological sciences, 1974-05, Vol.22 (1), p.73-82 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |