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Stefanie Eggers Selected Research

XX Disorders of Sex Development 46 (Female Pseudohermaphroditism)

11/2016Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
1/2016Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.

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Stefanie Eggers Research Topics

Disease

246,XY Disorder of Sex Development (Male Pseudohermaphroditism)
11/2016 - 01/2016
2XX Disorders of Sex Development 46 (Female Pseudohermaphroditism)
11/2016 - 01/2016
1Neuronal Ceroid-Lipofuscinoses (Neuronal Ceroid Lipofuscinosis)
08/2021
1Mitochondrial Diseases (Mitochondrial Disease)
12/2019
1VLCAD deficiency
12/2019
1Seizures (Absence Seizure)
01/2018
1Sex Chromosome Disorders of Sex Development
01/2016
1Gonadal Dysgenesis (Gonadal Agenesis)
01/2016
1Disorders of Sex Development (Intersexuality)
11/2014

Drug/Important Bio-Agent (IBA)

2DNA (Deoxyribonucleic Acid)IBA
08/2021 - 11/2016
1RNA (Ribonucleic Acid)IBA
08/2021
1Mitochondrial DNA (mtDNA)IBA
12/2019
1Anticonvulsants (Antiepileptic Drugs)IBA
01/2018
1AndrogensIBA
01/2016
1Androstenedione (4 Androstene 3,17 dione)IBA
01/2016
1Testosterone (Sustanon)FDA Link
01/2016
117-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)IBA
01/2016
1inhibin BIBA
01/2016
1Transcription Factors (Transcription Factor)IBA
11/2014

Therapy/Procedure

1Neonatal Intensive Care
12/2019