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1. Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

4. GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity

5. Genotype-phenotype correlation in pseudoxanthoma elasticum

6. GNB1 and obesity:Evidence for a correlation between haploinsufficiency and syndromic obesity

7. Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal Dystrophies

8. Efficacy of Carbonic Anhydrase Inhibitors on Cystoid Fluid Collections and Visual Acuity in Patients with X-Linked Retinoschisis

9. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

10. Utilization of automated cilia analysis to characterize novel INPP5Evariants in patients with non-syndromic retinitis pigmentosa

11. CLINICAL AND GENETIC CHARACTERISTICS OF MALE PATIENTS WITH RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

13. The Natural History of Leber Congenital Amaurosis and Cone–Rod Dystrophy Associated with Variants in the GUCY2D Gene

14. X-Linked Retinoschisis Novel Clinical Observations and Genetic Spectrum in 340 Patients

15. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

16. CRB1-associated retinal dystrophies: a prospective natural history study in anticipation of future clinical trials

17. CRB1-Associated Retinal Dystrophies:A Prospective Natural History Study in Anticipation of Future Clinical Trials

18. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

19. X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

20. CRB1-Associated Retinal Dystrophies: A Anticipation of Future Clinical Trials: A Prospective Natural History Study in Anticipation of Future Clinical Trials

22. X-Linked Retinoschisis

23. CRB1-Associated Retinal Dystrophies: A Prospective Natural History Study in Anticipation of Future Clinical Trials

24. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

25. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective

26. X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients

27. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective

28. Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies

29. Defining inclusion criteria and endpoints for clinical trials:a prospective cross-sectional study in CRB1-associated retinal dystrophies

30. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA: A Long-Term Follow-Up Study

31. Genotype-phenotype correlation in pseudoxanthoma elasticum

34. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness

35. RPGR-Associated Dystrophies: Clinical, Genetic, and Histopathological Features

36. Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1 ‐associated retinal dystrophies

38. CLINICAL CHARACTERISTICS AND NATURAL HISTORY OF RHO-ASSOCIATED RETINITIS PIGMENTOSA

40. Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 Mutations

41. CLINICAL and GENETIC CHARACTERISTICS of MALE PATIENTS with RPGR-ASSOCIATED RETINAL DYSTROPHIES: A Long-Term Follow-up Study

42. Long-Term Follow-Up of Retinal Degenerations Associated WithLRATMutations and Their Comparability to Phenotypes Associated WithRPE65Mutations

43. The Phenotypic Spectrum of Albinism

44. The phenotypic spectrum of albinism

45. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR Gene

46. LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATION

47. The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in theRPGRGene

48. Genotypic and Phenotypic Characteristics of CRB1-Associated Retinal Dystrophies: A Long-Term Follow-up Study

49. LONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONS: A Severe Phenotype With Considerable Interindividual Variability

50. ABCC6 mutations in pseudoxanthoma elasticum: an update including eight novel ones

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