Κατάλογος ενδεικτικών δημοσιεύσεων του τμήματος Ιατρικής ΑΠΘ σε διεθνή επιστημονικά περιοδικά κατά τα τελευταία 5 έτη.
46,XY Disorder of Sex Development due to 17-Beta Hydroxysteroid Dehydrogenase Type 3 Deficiency in an Infant of Greek Origin..
J Clin Res Pediatr Endocrinol. 10(1), 74-78.
(2018). Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin..
Nat Genet. 42(9), 801-5.
(2010). Late diagnosis of 3β-Hydroxysteroid dehydrogenase deficiency: the pivotal role of gas chromatography-mass spectrometry urinary steroid metabolome analysis and a novel homozygous nonsense mutation in the HSD3B2 gene..
J Pediatr Endocrinol Metab.
(2020). A novel MKRN3 nonsense mutation causing familial central precocious puberty..
Endocrine. 56(2), 446-449.
(2017).