287 results on '"van Eerde, Albertien"'
Search Results
2. Translational strategies to uncover the etiology of congenital anomalies of the kidney and urinary tract
3. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
4. Perspectives of Patients and Clinicians on Reproductive Health Care and ADPKD
5. KidneyNetwork: using kidney-derived gene expression data to predict and prioritize novel genes involved in kidney disease
6. The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
7. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
8. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
9. Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
10. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
11. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
12. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
13. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
14. Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract
15. Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
16. Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
17. Medullary Sponge Kidney and Its Relationship with Primary Distal Renal Tubular Acidosis: Case Reports and a Comprehensive Genetics-First Approach.
18. Clinical spectrum, prognosis and estimated prevalence of DNAJB11-kidney disease
19. Reassuring pregnancy outcomes in women with mild COL4A3-5 related disease (Alport Syndrome) as the genetic type of disease can aid personalized counseling.
20. Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria
21. GeNepher data- and biobank for patients with (suspected) genetic kidney disease: Rationale, design and status update
22. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants
23. The Role of Genetic Testing in Adult CKD
24. Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions
25. 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)
26. The Role of Genetic Testing in Adult CKD
27. Adult patient diagnosed with Muckle-Wells syndrome, antiphospholipid syndrome and glomerular haematuria
28. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
29. Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
30. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
31. Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT)
32. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms
33. Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
34. Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
35. Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome
36. Identification of human D lactate dehydrogenase deficiency
37. Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data
38. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
39. A questionnaire survey of radiological diagnosis and management of renal dysplasia in children
40. Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria
41. 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
42. Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
43. Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
44. MO047: Biallelic pathogenic variants in ROBO1 associate with syndromic CAKUT
45. MO034: Novel MUC1 variant identified by massively parallel sequencing explains interstitial kidney disease in a large Dutch family
46. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
47. Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference
48. FC044: Heterozygous Variants in Kinase Domain of NEK8 cause an Autosomal-Dominant Ciliopathy
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. 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
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