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1. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations

3. Quality of life, functioning and participation of children and adolescents with visual impairment: A scoping review

6. The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

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

8. Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

9. The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach

10. Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period

11. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

12. Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

13. Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders

14. Contributors

15. Functional Characterization of Splice Variants in the Diagnosis of Albinism.

17. IMPROVE 2022 International Meeting on Pathway‐Related Obesity: Vision of Excellence

18. Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

19. IMPROVE 2022 International Meeting on Pathway-Related Obesity:Vision of Excellence

20. Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

21. Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing

22. Mutations in TUBGCP4 Alter Microtubule Organization via the γ-Tubulin Ring Complex in Autosomal-Recessive Microcephaly with Chorioretinopathy

24. Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

25. Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation

27. Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

31. Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey

32. The Use of Dog Guides for Orientation and Mobility by Individuals With the Argus II Retinal Prosthesis: A Case Series

33. Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

34. Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis

35. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

36. Consensus clinical management guidelines for Alström syndrome

37. Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

39. Neuropathy target esterase activity predicts retinopathy amongPNPLA6disorders

40. WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

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

42. Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

43. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

44. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

47. Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey

50. High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features

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