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Publications by R.D. Bernardi

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

Related publications

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

THE PROFESSIONAL MEDICAL JOURNAL

English

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

Problemy Endokrinologii

English

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

European Journal of Endocrinology

English

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

English

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

English

A Case Report: 46 XY-disorder of Sexual Development

International Journal of Reproduction, Contraception, Obstetrics and Gynecology

English

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

European Journal of Human Genetics

English

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

Journal of Medical Genetics

English

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