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Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 13, p. N.PAG, doi. 10.3390/cells11132088
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- Publication type:
- Article
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
- Published in:
- 2021
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- Publication type:
- journal article
Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.79713
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- Publication type:
- Article
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
- Published in:
- 2011
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- Publication type:
- journal article
Novel and known nephrin gene ( NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.
- Published in:
- Journal of Genetics, 2013, v. 92, n. 3, p. 577, doi. 10.1007/s12041-013-0290-7
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- Publication type:
- Article