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COELI, FERNANDA BORCHERS [Author]
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Guaragna-Filho, Guilherme et al.
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene
.
Arq Bras Endocrinol Metab
, Nov 2012, vol.56, no.8, p.578-585. ISSN 0004-2730
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Castro, Carla Cristina Telles de Sousa et al.
Clinical and molecular spectrum of patients with 17
β
-hydroxysteroid dehydrogenase type 3 (17-
β
-HSD3) deficiency
.
Arq Bras Endocrinol Metab
, Nov 2012, vol.56, no.8, p.533-539. ISSN 0004-2730
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Mello, Maricilda Palandi de et al.
Novel
DMRT1
3'UTR+11insT mutation associated to XY partial gonadal dysgenesis
.
Arq Bras Endocrinol Metab
, Nov 2010, vol.54, no.8, p.749-753. ISSN 0004-2730
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Alves, Cresio et al.
46,XX Male - Testicular Disorder of Sexual Differentiation (DSD)
:
hormonal, molecular and cytogenetic studies
.
Arq Bras Endocrinol Metab
, Nov 2010, vol.54, no.8, p.685-689. ISSN 0004-2730
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Barros, Beatriz Amstalden et al.
A inclusão de novas técnicas de análise citogenética aperfeiçoou o diagnóstico cromossômico da síndrome de Turner
.
Arq Bras Endocrinol Metab
, Dez 2009, vol.53, no.9, p.1137-1142. ISSN 0004-2730
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Soardi, Fernanda Caroline et al.
Heterozygosis for
CYP21A2
mutation considered as 21-hydroxylase deficiency in neonatal screening
.
Arq Bras Endocrinol Metab
, Nov 2008, vol.52, no.8, p.1388-1392. ISSN 0004-2730
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Coeli, Fernanda Borchers et al.
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the
homozygous
missense
mutation
p.R186C in the
HSD11B2
gene
.
Arq Bras Endocrinol Metab
, Nov 2008, vol.52, no.8, p.1277-1281. ISSN 0004-2730
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