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Publications by A.T. Maciel-Guerra

The Novel p.E89K Mutation in the SRY Gene Inhibits DNA Binding and Causes the 46,XY Disorder of Sex Development

Brazilian Journal of Medical and Biological Research

English

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46 Xy Disorder; Etiological Classification of the Patient With Sex Development

THE PROFESSIONAL MEDICAL JOURNAL

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Disorder of Sex Development 46,XY Associated With Mutations in the Gene MAP3K1. The Report of Clinical Cases

Problemy Endokrinologii

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Partial Deletion of DMRT1 Causes 46,XY Ovotesticular Disorder of Sexual Development

European Journal of Endocrinology

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46,XY Disorder of Sex Development-Adrenal Insufficiency Due to CYP11A1 Deficiency

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46,XY Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency

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A Case Report: 46 XY-disorder of Sexual Development

International Journal of Reproduction, Contraception, Obstetrics and Gynecology

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Broad Phenotypes in Heterozygous NR5A1 46,XY Patients With a Disorder of Sex Development: An Oligogenic Origin?

European Journal of Human Genetics

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A Novel Mutation in the Connexin 46 Gene Causes Autosomal Dominant Congenital Cataract With Incomplete Penetrance

Journal of Medical Genetics

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The First Clinical Presentation of Disorders of Sex Development 46 XY Due to Mutation in Steroidogenic Factor 1 (SF1) in Russian Literature

Problemy Endokrinologii

English