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Material Type: Artigo
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A novel deletion mutation, c.1296delT in the BCOR gene, is associated with oculo-facio-cardio-dental syndromeZhang, Jingshang ; Jia, Hongyan ; Wang, Jinda ; Xiong, Ying ; Li, Jing ; Li, Xiaoxia ; Zhao, Jing ; Zhang, Xiaohui ; You, Qisheng ; Zhu, Guyu ; Tsai, Frank F. ; Espina, Mark ; Wan, XiuhuaScience China. Life sciences, 2019, Vol.62 (1), p.119-125 [Periódico revisado por pares]Beijing: Science China PressTexto completo disponível |
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Material Type: Artigo
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Anesthetic management of three pediatric cases with Pena–Shokeir syndromeTsujikawa, Shogo ; Okutani, Ryu ; Tsujii, Kenji ; Oda, YutakaJournal of anesthesia, 2012-06, Vol.26 (3), p.445-448 [Periódico revisado por pares]Japan: Springer JapanTexto completo disponível |
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3 |
Material Type: Artigo
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Branchio-oculo-facial syndromeKULKARNI, M. L ; DESHMUKH, Shilpa ; KUMAR, Ananda ; KULKARNI, Preethi MIndian journal of pediatrics, 2005-08, Vol.72 (8), p.701-703 [Periódico revisado por pares]Heidelberg: SpringerTexto completo disponível |
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Material Type: Artigo
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Case report: Goldenhar syndrome following donor oocyte IVFGittins, Victoria ; Kasraie, JasonJournal of assisted reproduction and genetics, 2010-09, Vol.27 (9-10), p.561-563 [Periódico revisado por pares]Boston: Springer USTexto completo disponível |
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Material Type: Artigo
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Cerebellar involvement in the coordination control of the oculo-manual tracking system: effects of cerebellar dentate nucleus lesionVERCHER, J.-L ; GAUTHIER, G. MExperimental brain research, 1988-01, Vol.73 (1), p.155-166 [Periódico revisado por pares]Berlin: SpringerTexto completo disponível |
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Material Type: Artigo
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Cervicocephalic relocation test to evaluate cervical proprioception in adolescent idiopathic scoliosisGuyot, Marc-Alexandre ; Agnani, Olivier ; Peyrodie, Laurent ; Samantha, Demaille ; Donze, Cécile ; Catanzariti, Jean-FrancoisEuropean spine journal, 2016-10, Vol.25 (10), p.3130-3136 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Ciliary ganglion afferents and efferents variations: a possible explanation of postganglionic mydriasisHamel, Olivier ; Corre, Pierre ; Ploteau, Stéphane ; Armstrong, Olivier ; Rogez, Jean-Michel ; Robert, Roger ; Hamel, AntoineSurgical and radiologic anatomy (English ed.), 2012-12, Vol.34 (10), p.897-902 [Periódico revisado por pares]Paris: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Dysphagia in children with oculo-auriculo-vertebral spectrumYokochi, K ; Terasawa, S ; Kono, C ; Fujishima, IDysphagia, 1997, Vol.12 (4), p.222-225 [Periódico revisado por pares]United States: Springer Nature B.VTexto completo disponível |
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9 |
Material Type: Artigo
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Ectopic external auditory canal and ossicular formation in the oculo-auriculo-vertebral spectrumSupakul, Nucharin ; Kralik, Stephen F. ; Ho, Chang Y.Pediatric radiology, 2015-07, Vol.45 (7), p.1099-1102 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Electrophysiological Activity from the Eye Muscles, Cerebellum and Cerebrum During Reflexive (Classical Pavlovian) Versus Voluntary (Ivanov-Smolensky) Eye-Blink ConditioningTodd, Neil P. M. ; Govender, Sendhil ; Keller, Peter E. ; Colebatch, James G.Cerebellum (London, England), 2024-06, Vol.23 (3), p.1086-1100 [Periódico revisado por pares]New York: Springer USTexto completo disponível |