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Susana Kofman Alfaro

National Autonomous University of Mexico

38

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A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population

2009 Journal of Human Genetics
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Mix Gonadal Dysgenesis Associated with Ring Y Chromosome Mosaics in a Phenotypic Male

2009 Sexual Development
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Loss of Cytochrome P450 17A1 Protein Expression in a 17α-Hydroxylase/17,20-Lyase-Deficient 46,XY Female Caused by Two Novel Mutations in the CYP17A1 Gene

2009 Endocrine Pathology
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Acrodysostosis in two generations: an autosomal dominant syndrome.

2008 Clinical Genetics
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Participation of OCT3/4 and β-catenin during dysgenetic gonadal malignant transformation

2008 Cancer Letters
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Congenital heart defect and conductive hypoacusia in a patient with the KBG syndrome

2008 Clinical Genetics
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Extragonadal germ cell tumors are often associated with Klinefelter syndrome

2006 Human Pathology
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Point mutation in the STS gene in a severely affected patient with X-linked recessive ichthyosis.

2006 Acta Dermato-venereologica
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Molecular analysis of the NDP gene in two families with Norrie disease.

2005 Acta Ophthalmologica Scandinavica
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Diferenciación sexual normal y patológica

2005
- Susana Kofman Alfaro
- Gloria Queipo
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