Magdalena Avbelj-Stefanija

9PUBLICATIONS
13CO-AUTHORS
Cancer geneticsDevelopmental genetics (incl. sex determination)Paediatrics not elsewhere classifiedAutonomic nervous systemEpigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Nov 12, 2022
GNRHR-related central hypogonadism with spontaneous recovery - case report.

Darja Šmigoc Schweiger, Maja Davidović Povše, Katarina Trebušak Podkrajšek

|Oct 13, 2022
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres.

Luca Persani, Martine Cools, Stamatina Ioakim

|May 28, 2022
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

Tinka Hovnik, Eva Zitnik, Magdalena Avbelj Stefanija

|May 28, 2022
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

Tjasa Krasovec, Jaka Sikonja, Mojca Zerjav Tansek

|Apr 23, 2022
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees.

Samar S Hassan, Mohamed Abdullah, Katarina Trebusak Podkrajsek

|Mar 06, 2021
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.

Jasna Suput Omladic, Maja Pajek, Urh Groselj

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Frequent Collaborators

4 joint publications

Katarina Trebusak Podkrajsek

4 joint publications

Urh Groselj

3 joint publications

Tadej Battelino

2 joint publications

Jernej Kovac