Found: 13
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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
- Published in:
- Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
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- Article
No evidence of the involvement of the Fas −670 promoter polymorphism in cervical cancer in situ.
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- International Journal of Cancer, 2004, v. 112, n. 6, p. 1084, doi. 10.1002/ijc.20515
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- Article
Maternal risk associated with the VACTERL association: A case–control study.
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- Birth Defects Research, 2020, v. 112, n. 18, p. 1495, doi. 10.1002/bdr2.1773
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- Article
Corrigendum: Common variants in DGKK are strongly associated with risk of hypospadias.
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- 2011
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- Correction notice
Common variants in DGKK are strongly associated with risk of hypospadias.
- Published in:
- Nature Genetics, 2011, v. 43, n. 1, p. 48, doi. 10.1038/ng.721
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- Article
Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT).
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- Nephrology Dialysis Transplantation, 2011, v. 26, n. 12, p. 3843
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- Article
TRPV5 gene polymorphisms in renal hypercalciuria.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 6, p. 1919, doi. 10.1093/ndt/gfn735
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- Article
Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients.
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- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0031327
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- Article
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)
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- Hypertension Research, 2018, v. 41, n. 11, p. 981, doi. 10.1038/s41440-018-0094-5
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- Article
Gain of glycosylation in integrin a3 causes lung disease and nephrotic syndrome.
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- Journal of Clinical Investigation, 2012, v. 122, n. 12, p. 4375, doi. 10.1172/JCI64100
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- Article
A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.
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- Biomedicines, 2022, v. 10, n. 12, p. 3023, doi. 10.3390/biomedicines10123023
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- Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
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- Article
Wnt5a Deficiency Leads to Anomalies in Ureteric Tree Development, Tubular Epithelial Cell Organization and Basement Membrane Integrity Pointing to a Role in Kidney Collecting Duct Patterning.
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- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147171
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- Article