Search

Your search keyword '"Oculocerebrorenal Syndrome diagnosis"' showing total 89 results

Search Constraints

Start Over You searched for: Descriptor "Oculocerebrorenal Syndrome diagnosis" Remove constraint Descriptor: "Oculocerebrorenal Syndrome diagnosis"
89 results on '"Oculocerebrorenal Syndrome diagnosis"'

Search Results

1. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

2. Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.

3. Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature.

4. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.

5. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome?

6. Lowe syndrome - Old and new evidence of secondary mitochondrial dysfunction.

7. Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.

8. Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.

9. Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.

10. Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.

11. Ophthalmological finding in a patient with lowe syndrome.

12. A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome.

13. [Prenatal diagnosis and follow-up of a case with Lowe syndrome caused by interstitial deletion of Xq25-26].

14. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.

15. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.

16. Delayed vitreous haemorrhage after paediatric cataract surgery in Lowe syndrome.

17. [A case of Lowe syndrome].

18. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.

20. Novel mutation of OCRL1 in Lowe syndrome.

21. Neuroimaging and renal ultrasound manifestations of Oculocerebrorenal syndrome of Lowe.

23. [A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].

24. Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.

25. Antenatal diagnosis of Lowe syndrome.

26. Lowe syndrome: report of five cases.

27. Index of suspicion.

29. OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

30. Mutations in OCRL1 gene in Indian children with Lowe syndrome.

31. [From gene to disease; Dent's disease caused by abnormalities in the CLCN5 and OCRL1 genes].

32. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].

33. [The Lowe syndrome in a 16-year-old patient--case report].

34. [Lowe syndrome].

35. [Cryptorchidism and chromosomal anomalies (Edwards, Patau, Lowe syndrome)].

36. Lowe syndrome.

37. [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].

39. [Corneal changes in Lowe syndrome].

40. [Clinical and genetic results with reference to corneal alterations in Lowe-syndrome].

41. Lowe syndrome: proton mr spectroscopy, and diffusion mr imaging.

42. Advanced renal insufficiency in a 34-year-old man with Lowe syndrome.

43. Lowe syndrome with anal atresia: a possible variant of OCRL?

44. [2 cases of Lowe syndrome].

45. Cytochrome oxidase deficiency in Lowe syndrome.

46. [Diagnostic management of patients with rare genetic diseases: example of five pathologies].

47. MRI and proton spectroscopy in Lowe syndrome.

48. Unusual renal features of Lowe syndrome in a mildly affected boy.

49. Retinoblastoma in a patient with Lowe's syndrome.

Catalog

Books, media, physical & digital resources