Associated Papers
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified
A rare case of methemoglobinemia in a preterm newborn with unclear etiology.
Abu Zahra M et al.
Journal of Neonatal-perinatal Medicine, 2024
Hereditary Spherocytosis: Can Next-Generation Sequencing of the Five Most Frequently Affected Genes Replace Time-Consuming Functional Investigations?
Häuser F et al.
International Journal of Molecular Sciences, 2023
38069343 (PubMed )
Supplement: ijms-24-17021-s001.zip › Suppl_Table.xlsx › TabS4
Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.
Creasey T et al.
British Journal of Haematology, 2018
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