Magdalena Avbelj Stefanija (Magdalena Avbelj-Stefanija)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 8

Top Venues

Genes

Medicina (Kaunas, Lithuania)

Endocrine connections

Orphanet journal of rare diseases

This page only lists publications with an associated author ORCID identifier.

Publications

Darja Šmigoc Schweiger, Maja Davidović Povše, Katarina Trebušak Podkrajšek, Tadej Battelino, Magdalena Avbelj Stefanija
GNRHR-related central hypogonadism with spontaneous recovery - case report. Italian journal of pediatrics 48 (1) (2022)
Luca Persani, Elfride De Baere, Stamatina Ioakim, Syed Faisal Ahmed, Silvia Andonova, Magdalena Avbelj Stefanija, Federico Baronio, Jerome Bouligand, Hennie T Bruggenwirth, Justin H Davies, Elfride De Baere, Iveta Dzivite-Krisane, Paula Fernandez-Alvarez, Alexander Gheldof, Claudia Giavoli, Claus H Gravholt, Olaf Hiort, Paul-Martin Holterhus, Anders Juul, Csilla Krausz, Kristina Lagerstedt-Robinson, Ruth McGowan, Uta Neumann, Antonio Novelli, Xavier Peyrassol, Leonidas A Phylactou, Julia Rohayem, Philippe A Touraine, Dineke Westra, Valeria Vezzoli, Raffaella Rossetti
The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres. Endocrine connections 11 (12) (2022)
Tinka Hovnik, Eva Zitnik, Magdalena Avbelj Stefanija, Sara Bertok, Katarina Sedej, Vesna Bancic Silva, Tadej Battelino, Urh Groselj
An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature. Genes 13 (5) (2022)
Tjasa Krasovec, Jaka Šikonja, Mojca Tanšek Žerjav, Marusa Debeljak, Sasa Ilovar, Katarina Trebušak Podkrajšek, Sara Bertok, Tine Tesovnik, Jernej Kovac, Jasna Suput Omladic, Michaela Friederike Hartmann, Stefan A Wudy, Magdalena Avbelj Stefanija, Tadej Battelino, Primoz Kotnik, Urh Groselj
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency. Genes 13 (5) (2022)
Samar S Hassan, Mohamed Abdullah, Katarina Trebušak Podkrajšek, Salwa Musa, Areej Ibrahim, Omer Babiker, Jernej Kovac, Tadej Battelino, Magdalena Avbelj Stefanija
A Novel Splice-Site Deletion in the POU1F1 Gene Causes Combined Pituitary Hormone Deficiency in Multiple Sudanese Pedigrees. Genes 13 (4) (2022)
Jasna Suput Omladic, Maja Pajek, Urh Groselj, Katarina Trebušak Podkrajšek, Magdalena Avbelj Stefanija, Mojca Zerjav Tansek, Primoz Kotnik, Tadej Battelino, Darja Smigoc Schweiger
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant. Medicina (Kaunas, Lithuania) 57 (3) (2021)
Maja Pajek, Magdalena Avbelj Stefanija, Katarina Trebušak Podkrajšek, Jasna Suput Omladic, Mojca Zerjav Tansek, Tadej Battelino, Urh Groselj
Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene. Medicina (Kaunas, Lithuania) 56 (12) (2020)
Nina Bratanič, Jernej Kovač, Katka Pohar, Katarina Trebušak Podkrajšek, Alojz Ihan, Tadej Battelino, Magdalena Avbelj Stefanija
Multifocal gastric adenocarcinoma in a patient with LRBA deficiency. Orphanet journal of rare diseases 12 (1) (2017)

Magdalena Avbelj Stefanija.css-eqlu8i{font-size:small;padding-left:4px;} (Magdalena Avbelj-Stefanija)

Publication Activity (10 Years)

Top Topics

Top Venues

Magdalena Avbelj Stefanija (Magdalena Avbelj-Stefanija)