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Material Type: Artigo
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Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G. Ng Kimiyo Raymond; Martin Kircher; Kati J Buckingham; Tim Wood; Jay Shendure; Deborah A Nickerson; Michael J Bamshad; Jonathan T. S Wong; Fabiola Paoli Monteiro; Brett H Graham; Sheryl Jackson; Rebecca Sparkes; Angela E Scheuerle; Sara Cathey; Fernando Kok; James B Gibson; Hudson H FreezeHuman Mutation Hoboken v. 36, n. 11, p. on-line, 2015Hoboken 2015Localização: FM - Fac. Medicina (BCSEP 470 2015 )(Acessar) |
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Material Type: Artigo
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Common genetic causes of holoprosencephaly are limited to a small set of evolutionarily conserved driver genes of midline development coordinated by TGF-β, hedgehog, and FGF signalingErich Roessler Ping Hu; Juliana Marino; Sungkook Hong; Rachel Hart; Seth Berger; Ariel Martinez; Yu Abe; Paul Kruszka; James W Thomas; James C Mullikin NISC Comparative Sequencing Program; Yupeng Wang; Wendy S. W Wong; John E Niederhuber; Benjamin D Solomon; Antonio Richieri-Costa; Lucilene Arilho Ribeiro Bicudo; Maximilian MuenkeHuman Mutation Hoboken v. 39, n. 10, p. 1416-1427, 2018Hoboken 2018Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Cytogenetically visible inversions are formed by multiple molecular mechanismsMaria Pettersson Christopher M Grochowski; Josephine Wincent; Jesper Eisfeldt; Amy M Breman; Sau W Cheung; Ana Cristina Victorino Krepischi; Carla Rosenberg; James R Lupski; Jesper Ottosson; Lovisa Lovmar; Jelena Gacic; Elisabeth S Lundberg; Daniel Nilsson; Claudia M. B Carvalho; Anna LindstrandHuman Mutation Hoboken v. 41, n. 11, p. 1979-1998, 2020Hoboken 2020Item não circula. Consulte sua biblioteca.(Acessar) |
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Material Type: Artigo
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Phenotypic and mutational spectrum of ROR2-related Robinow syndromeAriadne R. Lima Barbara M Ferreira; Chaofan Zhang; Angad Jolly; Haowei Du; Janson J White; Moez Dawood; Tulio C Lins; Marcela A Chiabai; Ellen van Beusekom; Mara S Cordoba; Erica C. C. Caldas Rosa; Hulya Kayserili; Virginia Kimonis; Erica Wu; Cecilia Mellado; Vineet Aggarwal; Antonio Richieri-Costa; Décio Brunoni; Talyta M Canó; Alexander A. L Jorge; Chong Ae Kim; Rachel Honjo; Débora R Bertola; Raissa M Dandalo-Girardi; Yavuz Bayram; Alper Gezdirici; Elif Yilmaz-Gulec; Evren Gumus; Gülay C Yilmaz; Nobuhiko Okamoto; Hirofumi Ohashi; Zeynep Coban–Akdemir; Tadahiro Mitani; Shalini N Jhangiani; Donna M Muzny; Neysa A. P Regattieri; Robert Pogue; Rinaldo W Pereira; Paulo A Otto; Richard A Gibbs; Bassam R Ali; Hans van Bokhoven; Han G Brunner; V. Reid Sutton; James R Lupski; Angela M Vianna-Morgante; Claudia M. B Carvalho; Juliana F MazzeuHuman Mutation v. 43, n. 7, p. 900-918, July 2022Hoboken 2022Acesso online. A biblioteca também possui exemplares impressos. |