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Reshaping the Binding Pocket of the Neurotransmitter:Solute Symporter (NSS) Family Transporter SLC6A14 (ATB 0,+) Selectively Reduces Access for Cationic Amino Acids and Derivatives.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 10, p. N.PAG, doi. 10.3390/biom12101404
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- Article
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.
- Published in:
- Genes, 2022, v. 13, n. 10, p. N.PAG, doi. 10.3390/genes13101687
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- Article
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3766, doi. 10.1093/hmg/ddz202
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- Article
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1615, doi. 10.1007/s00467-019-04267-x
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- Publication type:
- Article
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.
- Published in:
- Physiological Reports, 2018, v. 6, n. 12, p. 1, doi. 10.14814/phy2.13715
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- Publication type:
- Article
Resculpting the binding pocket of APC superfamily LeuT-fold amino acid transporters.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 5, p. 921, doi. 10.1007/s00018-017-2677-8
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- Article
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion.
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- 2017
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- Case Study
A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.
- Published in:
- Clinical Kidney Journal, 2015, v. 8, n. 1, p. 113, doi. 10.1093/ckj/sfu129
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- Publication type:
- Article
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 7, p. 480, doi. 10.1038/jhg.2013.27
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- Publication type:
- Article