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1 |
Material Type: Artigo
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McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasiaCollins, Michael T ; Singer, Frederick R ; Eugster, EricaOrphanet journal of rare diseases, 2012-05, Vol.7 Suppl 1 (Suppl 1), p.S4-S4 [Periódico revisado por pares]England: BioMed CentralTexto completo disponível |
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2 |
Material Type: Artigo
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McCune-Albright syndromeDumitrescu, Claudia E ; Collins, Michael TOrphanet journal of rare diseases, 2008-05, Vol.3 (1), p.12-12, Article 12 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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3 |
Material Type: Artigo
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The Child Affective Facial Expression (CAFE) set: validity and reliability from untrained adultsLoBue, Vanessa ; Thrasher, CatFrontiers in psychology, 2015-01, Vol.5, p.1532-1532 [Periódico revisado por pares]Switzerland: Frontiers Media S.ATexto completo disponível |
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4 |
Material Type: Artigo
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Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1Hirata, Yasuko ; Brems, Hilde ; Suzuki, Mayu ; Kanamori, Mitsuhiro ; Okada, Masahiro ; Morita, Rimpei ; Llano-Rivas, Isabel ; Ose, Toyoyuki ; Messiaen, Ludwine ; Legius, Eric ; Yoshimura, AkihikoThe Journal of biological chemistry, 2016-02, Vol.291 (7), p.3124-3134 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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Interface-induced superconductivity at ∼25 K at ambient pressure in undoped CaFe₂As₂ single crystalsZhao, Kui ; Lv, Bing ; Deng, Liangzi ; Huyan, Shu-Yuan ; Xue, Yu-Yi ; Chu, Ching-WuProceedings of the National Academy of Sciences - PNAS, 2016-11, Vol.113 (46), p.12968-12973 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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6 |
Material Type: Artigo
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Jaffe-Campanacci syndrome; a case series and review of the literatureSabry, Ahmed O ; Abolenain, Ahmed Salem ; Mostafa, Noureldin ; Ramadan, Abdelraouf ; Ghanem, MohamedBMC musculoskeletal disorders, 2024-06, Vol.25 (1), p.502-9, Article 502 [Periódico revisado por pares]BioMed Central LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Being Together in MusicMiyake, 三宅 博子, HirokoVoices : a world forum for music therapy, 2022-03, Vol.22 (1) [Periódico revisado por pares]GAMUT - Grieg Academy Music Therapy Research Centre (NORCE & University of Bergen)Texto completo disponível |
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8 |
Material Type: Artigo
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One NF1 Mutation may Conceal AnotherPacot, Laurence ; Burin des Roziers, Cyril ; Laurendeau, Ingrid ; Briand-Suleau, Audrey ; Coustier, Audrey ; Mayard, Théodora ; Tlemsani, Camille ; Faivre, Laurence ; Thomas, Quentin ; Rodriguez, Diana ; Blesson, Sophie ; Dollfus, Hélène ; Muller, Yvon-Gauthier ; Parfait, Béatrice ; Vidaud, Michel ; Gilbert-Dussardier, Brigitte ; Yardin, Catherine ; Dauriat, Benjamin ; Derancourt, Christian ; Vidaud, Dominique ; Pasmant, EricGenes, 2019-08, Vol.10 (9), p.633 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs42) of the NF1 gene in a Chinese family with neurofibromatosis type 1Yang, Lisha ; Fu, Jiewen ; Cheng, Jingliang ; Zhou, Baixu ; Chen, Maomei ; Anuchapreeda, Songyot ; Fu, JunjiangBMC medical genomics, 2023-04, Vol.16 (1), p.85-85, Article 85 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Distinctive expansion of gene families associated with plant cell wall degradation, secondary metabolism, and nutrient uptake in the genomes of grapevine trunk pathogensMorales-Cruz, Abraham ; Amrine, Katherine C H ; Blanco-Ulate, Barbara ; Lawrence, Daniel P ; Travadon, Renaud ; Rolshausen, Philippe E ; Baumgartner, Kendra ; Cantu, DarioBMC genomics, 2015-06, Vol.16 (1), p.469-469, Article 469 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |