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Material Type: Artigo
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Pathogenic TERT promoter variants in telomere diseasesFernanda Gutierrez-Rodrigues Flávia Sacilotto Donaires; André Luiz Pinto Santos; Alana Vicente; Laura W Dillon; Diego Villa Clé; Bárbara Amélia Aparecida Santana; Mehdi Pirooznia; Maria del Pilar F Ibanez; Danielle M Townsley; Sachiko Kajigaya; Christopher S Hourigan; James N Cooper; Rodrigo Tocantins Calado; Neal S YoungGenetics in Medicine New York v. 21, n. 7, p. 1594-1602, 2019New York 2019Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2976752 Estantes Deslizantes )(Acessar) |
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Material Type: Artigo
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Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C SchutteGenetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009Maryland 2009Item não circula. Consulte sua biblioteca.(Acessar) |
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3 |
Material Type: Artigo
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Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndromeRenata Lúcia Leite Ferreira de Lima Sarah A Hoper; Michella Ghassibe; Margaret E Cooper; Nicholas K Rorick; Shinji Kondo; Lori Katz; Mary L Marazita; John Compton; Sherri Bale; Ute Hehr; Michael J Dixon; Sandra Daack-Hirsch; Odile Boute; Bénédicte Bayet; Nicole Revencu; Christine Verellen-Dumoulin; Miikka Vikkula; Antonio Richieri-Costa; Danilo Moretti Ferreira; Jeffrey C Murray; Brian C SchutteGenetics in Medicine Baltimore v. 11, n. 4, p. 241-247, Apr. 2009Maryland 2009Item não circula. Consulte sua biblioteca.(Acessar) |
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4 |
Material Type: Artigo
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De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsySa, M.N.J. ; Venselaar, H. ; Wiel, L. ; Trimouille, A. ; Lasseaux, E. ; Naudion, S. ; Lacombe, D. ; Piton, A. ; Vincent-Delorme, C. ; Zweier, C. ; Reis, A. ; Trollmann, R. ; Ruiz, A. ; Gabau, E. ; Vetro, A. ; Guerrini, R. ; Bakhtiari, S. ; Kruer, M.C. ; Amor, D.J. ; Cooper, M.S. ; Bijlsma, E.K. ; Barakat, T.S. ; Dooren, M.F. van ; Slegtenhorst, M. van ; Pfundt, R. ; Gilissen, C. ; Willemsen, M.A. ; Vries, B.B.A. de ; Brouwer, A.P.M. de ; Koolen, D.A.Genetics in Medicine, 2020-04, Vol.22 (4), p.797-802NATURE PUBLISHING GROUPTexto completo disponível |