214 results on '"van Eerde, Albertien"'
Search Results
2. Perspectives of Patients and Clinicians on Reproductive Health Care and ADPKD
3. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
4. The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
5. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
6. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
7. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
8. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
9. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
10. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
11. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
12. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.
13. Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria
14. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
15. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
16. The Role of Genetic Testing in Adult CKD
17. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
18. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria(European Journal of Human Genetics, (2021), 29, 8, (1186-1197), 10.1038/s41431-021-00858-1)
19. Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria
20. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
21. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
22. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
23. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
24. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
25. Identification of human D lactate dehydrogenase deficiency
26. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
27. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
28. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
29. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations
30. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
31. Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
32. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
33. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
34. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
35. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
36. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
37. 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
38. 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
39. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
40. NOVEL MUC1 VARIANT IDENTIFIED BY MASSIVELY PARALLEL SEQUENCING EXPLAINS INTERSTITIAL KIDNEY DISEASE IN A LARGE DUTCH FAMILY
41. Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study
42. 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
43. Guidelines for Genetic Testing and Management of Alport Syndrome
44. Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA
45. Genetics-first approach improves diagnostics of ESKD patients <50 years old
46. 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
47. Diagnostic yield of massively parallel sequencing in patients with chronic kidney disease of unknown etiology: rationale and design of a national prospective cohort study
48. Guidelines for Genetic Testing and Management of Alport Syndrome
49. 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
50. Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome
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