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Your search keyword '"van Eerde, Albertien"' showing total 15 results

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1. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.

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)

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

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15. Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

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