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1. A proteogenomic atlas of the human neural retina

4. Contributors

5. Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

6. Evolutionary origin of Hoxc13-dependent skin appendages in amphibians

8. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4

9. Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction

10. Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

11. Spleen function is reduced in individuals with NR5A1 variants with or without DSD: a cross-sectional study

13. Paediatric cataract surgery with 27G vitrectomy instrumentation: the Ghent University Hospital Experience

15. Comparative 3D genome analysis between neural retina and RPE reveals differentialcis-regulatory interactions at retinal disease loci

16. Response to L.A. Beretich and K.N. Beretich

18. CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

21. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

22. The Role of MCM9 in the Etiology of Sertoli Cell-Only Syndrome and Premature Ovarian Insufficiency

25. Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series

26. The genetic diagnosis of rare endocrine disorders of sex development and maturation: a survey among Endo-ERN centres

27. Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

28. GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141

29. Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

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

31. Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study

33. Recommendations for whole genome sequencing in diagnostics for rare diseases

35. Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

36. Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

38. X-Linked Retinoschisis

39. Comparative Natural History of Visual Function From Patients With Biallelic Variants inBBS1andBBS10

40. Loss of CEP162 function at the primary cilium delays ciliogenesis and causes retinal ciliopathy in humans

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

42. Genetic risk estimates for offspring of patients with Stargardt disease

44. A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair

48. Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss

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