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Material Type: Artigo
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Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephalyKelly A. Bear Benjamin D Solomon; Sonir Antonini; Ivo J. P Arnhold; Marcela M França; Erica H Gerkes; Dorothy K Grange; Donald W Hadley; Jarmo Jääskeläinen; Sabrina S Paulo; Patrick Rump; Constantine A Stratakis; Elizabeth M Thompson; Mary Willis; Thomas L Winder; Alexander A. L Jorge; Erich Roessler; Maximilian MuenkeJournal of Medical Genetics London v. 51, n. 6, p. 413-418, 2014London 2014Acesso online. A biblioteca também possui exemplares impressos. |
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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) |