檢索結果 - D. Bernardi
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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development 由 J.L. Cunha, Fernanda Caroline Soardi, R.D. Bernardi, Luiz Eduardo Chimello de Oliveira, Celso Eduardo Benedetti, Gil Guerra‐Júnior, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello
出版 2011Artigo -
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The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development 由 J.L. Cunha, Fernanda Caroline Soardi, R.D. Bernardi, Luiz Eduardo Chimello de Oliveira, Celso Eduardo Benedetti, Gil Guerra‐Júnior, Andréa Trevas Maciel‐Guerra, Maricilda Palandi de Mello
出版 2011Artigo -
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Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening 由 Fernanda Caroline Soardi, Sofia Helena Valente de Lemos‐Marini, Fernanda Borchers Coeli, Víctor Gonçalves Maturana, Márcia Duarte Barbosa da Silva, R.D. Bernardi, Giselle Z. Justo, Maricilda Palandi de Mello
出版 2008Artigo -
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Novel deletion alleles carrying CYP21A1P/A2chimeric genes in Brazilian patients with 21-hydroxylase deficiency 由 Fernanda Borchers Coeli, Fernanda Caroline Soardi, R.D. Bernardi, Marcela de Araújo, Luciana Campos Paulino, Ivy F. Lau, Reginaldo José Petroli, Sofia Helena Valente de Lemos‐Marini, M T M Baptista, Gil Guerra‐Júnior, Maricilda Palandi de Mello
出版 2010Artigo
相關主題
Biology
Endocrinology
Gene
Genetics
Mutation
DNA
DNA-binding protein
Gonadal dysgenesis
HMG-box
High-mobility group
Medicine
Missense mutation
Molecular biology
Sex reversal
Testis determining factor
Transcription factor
Y chromosome
21-Hydroxylase
Allele
Alternative splicing
Breakpoint
Chimeric gene
Chromosomal translocation
Congenital adrenal hyperplasia
Diabetes mellitus
Environmental health
Epistemology
Exon
Gene expression
Genome