15 results on '"van Eerde, Albertien"'
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2. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
3. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
4. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
5. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
6. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
7. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
8. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
9. Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease
10. Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling
11. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
12. Differences in presentation and progression between severe FIC1 and BSEP deficiencies
13. Candidate Genes for Vesico-Ureteral Reflux
14. 128
15. Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
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