49 results on '"van Eerde, Albertien"'
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2. Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria
3. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
4. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
5. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
6. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
7. Review of genetic testing in kidney disease patients: Diagnostic yield of single nucleotide variants and copy number variations evaluated across and within kidney phenotype groups
8. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
9. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
10. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
11. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
12. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
13. Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study
14. Guidelines for Genetic Testing and Management of Alport Syndrome
15. An update on the use of tolvaptan for autosomal dominant polycystic kidney disease: consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders, the European Rare Kidney Disease Reference Network and Polycystic Kidney Disease International
16. FC 011KIDNEYNETWORK: USING KIDNEY DERIVED GENE EXPRESSION DATA TO PREDICT AND PRIORITIZE NOVEL GENES INVOLVED IN KIDNEY DISEASE
17. FC 012PRIMARY KIDNEY DISEASE IMPACTS OUTCOME IN CKD PREGNANCIES: COMPLICATIONS IN COL4A3-5 RELATED DISEASE (ALPORT SYNDROME) VS OTHER CKD PREGNANCIES
18. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
19. Genetics-first approach improves diagnostics of ESKD patients <50 years old
20. Preimplantation Genetic Testing for Monogenic Kidney Disease
21. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
22. The lysosomal V-ATPase B1 subunit in proximal tubule is linked to nephropathic cystinosis
23. P0050PRE-IMPLANTATION GENETIC TESTING FOR MONOGENIC KIDNEY DISEASE: TWENTY-FIVE YEAR EXPERIENCE IN THE NETHERLANDS
24. Pregnancy in Advanced Kidney Disease: Clinical Practice Considerations on a Challenging Combination
25. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
26. Identification of human D lactate dehydrogenase deficiency
27. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
28. Importance of Genetic Diagnostics in Adult-Onset Focal Segmental Glomerulosclerosis
29. SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
30. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
31. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
32. NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD
33. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies
34. Importance of reliable variant calling and clear phenotyping when reporting on gene panel testing in renal disease
35. Pre-pregnancy advice in chronic kidney disease: do not forget genetic counseling
36. The expanding phenotypic spectra of kidney diseases: insights from genetic studies
37. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
38. 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
39. Management of a Giant Omphalocele with Non–Cross-Linked Intact Porcine-Derived Acellular Dermal Matrix (Strattice) Combined with Vacuum Therapy
40. Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
41. SP001TARGETED SEQUENCING OF 399 RENAL GENES RECLASSIFIES PRIMARY DISEASE DIAGNOSES IN YOUNG ESRD PATIENTS
42. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
43. Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients
44. Is joint hypermobility associated with vesico-ureteral reflux? An assessment of 50 patients
45. Differences in presentation and progression between severe FIC1 and BSEP deficiencies
46. Candidate Genes for Vesico-Ureteral Reflux
47. Linkage study of 14 candidate genes and loci in four large Dutch families with vesico-ureteral reflux
48. 128
49. Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux
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