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1. Epigenomic and phenotypic characterization of DEGCAGS syndrome

3. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

4. Phenotypic quantification of Nphs1-deficient mice

6. Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type

7. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

8. Natural History and Clinicopathological Associations of TRPC6-Associated Podocytopathy

11. Correction to: Phenotypic quantification of Nphs1‑deficient mice

12. Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population

14. Limbal BCAM expression identifies a proliferative progenitor population capable of holoclone formation and corneal differentiation

15. Pathogenic PHIP Variants are Variably Associated With CAKUT

16. Implication of transcription factor FOXD2 dysfunction in syndromic congenital anomalies of the kidney and urinary tract (CAKUT)

17. Strong protective effect of the APOL1 p.N264K variant against G2-associated focal segmental glomerulosclerosis and kidney disease

18. Multi-population genome-wide association study implicates immune and non-immune factors in pediatric steroid-sensitive nephrotic syndrome

19. De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis.

20. The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies

21. Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

23. List of contributors

25. Whole exome sequencing identifies monogenic forms of nephritis in a previously unsolved cohort of children with steroid-resistant nephrotic syndrome and hematuria

26. The utility of a genetic kidney disease clinic employing a broad range of genomic testing platforms: experience of the Irish Kidney Gene Project

27. The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

29. Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract

31. Reverse phenotyping facilitates disease allele calling in exome sequencing of patients with CAKUT

33. Genome Sequencing for Diagnosing Rare Diseases

35. Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

36. Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

37. Generation of Monogenic Candidate Genes for Human Nephrotic Syndrome Using 3 Independent Approaches

38. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome

39. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

40. Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

41. A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

42. A Genotype/Phenotype Study of KDM5B -Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.

43. Collaborative effort: managing Bardet-Biedl syndrome in pediatric patients. Case series and a literature review.

44. DAAM2 Variants Cause Nephrotic Syndrome via Actin Dysregulation

45. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT)

46. Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

47. Whole exome sequencing identified ATP6V1C2 as a novel candidate gene for recessive distal renal tubular acidosis

48. Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies

49. Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome

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