18 results on '"van Eerde, Albertien"'
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2. The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
3. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
4. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
5. Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
6. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
7. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
8. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
9. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
10. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
11. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
12. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
13. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
14. Differences in presentation and progression between severe FIC1 and BSEP deficiencies
15. Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
16. Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease
17. Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling
18. 128: Disruption of ROBO2 is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
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