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Publications by Eszter Jávorszky

The Importance of the Multiplex Ligation-Dependent Probe Amplification in the Identification of a Novel Two-Exon Deletion of the NR5A1 Gene in a Patient With 46,XY Differences of Sex Development

Molecular Biology Reports
MedicineGeneticsMolecular Biology
2019English

Related publications

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

THE PROFESSIONAL MEDICAL JOURNAL
2016English

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

European Journal of Human Genetics
Genetics
2018English

Deletions of NF1 Gene and Exons Detected by Multiplex Ligation-Dependent Probe Amplification

Journal of Medical Genetics
Genetics
2007English

Oncogene Amplification in Male Breast Cancer: Analysis by Multiplex Ligation-Dependent Probe Amplification

Breast Cancer Research and Treatment
Cancer ResearchOncology
2012English

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

Problemy Endokrinologii
EndocrinologyMetabolismDiabetes
2018English

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
ImmunologyCell BiologyPharmacologyBiochemistryBiophysicsNeuroscienceMedicineToxicologyPhysiologyPharmaceutics
2011English

Molecular Differences Between Ductal CarcinomaIn Situand Adjacent Invasive Breast Carcinoma: A Multiplex Ligation-Dependent Probe Amplification Study

Analytical Cellular Pathology
Molecular MedicineCell BiologyCancer ResearchForensic MedicineMedicinePathology
2010English

Genetic Heterogeneity in Uveal Melanoma Assessed by Multiplex Ligation-Dependent Probe Amplification

Investigative Ophthalmology and Visual Science
Molecular NeuroscienceOphthalmologySensory SystemsCellular
2010English

Detection of Chromosome Aneuploidies in Chorionic Villus Samples by Multiplex Ligation-Dependent Probe Amplification

Journal of Molecular Diagnostics
Forensic MedicinePathologyMolecular Medicine
2009English

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