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Genomic technologies and the diagnosis of 46, XY differences of sex development..
Andrology
13(5)
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1025 -1043
2025
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Marzuki, NS, Kartapradja, HD, Idris, FP.
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes..
J Clin Res Pediatr Endocrinol
2025
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Idris, FP, van den Bergen, J, Robevska, G, Ferreira, LGA, Ferreira, KR, Kizys, MML, Dias da Silva, MR, Bruggenwirth, HT, van Bever, Y, Sinclair, AH, et al.
Functional analysis of SRY variants in individuals with 46,XY differences of sex development..
Mol Cell Endocrinol
598:
112458
2025
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Kartapradja, H, Marzuki, NS, Pertile, MD, Francis, D, Suciati, LP, Anggaratri, HW, Ambarwati, DD, Idris, FP, Lesmana, H, Trimarsanto, H, et al.
Exceptional complex chromosomal rearrangements in three generations..
Case Rep Genet
2015:
321014
2015
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