817 results on '"Coucke, Paul"'
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2. A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract
3. Cell differentiation and matrix organization are differentially affected during bone formation in osteogenesis imperfecta zebrafish models with different genetic defects impacting collagen type I structure
4. CRISPR-SID : Identifying EZH2 as a druggable target for desmoid tumors via in vivo dependency mapping
5. Retained chromosomal integrity following CRISPR-Cas9-based mutational correction in human embryos
6. An exploration of alternative therapeutic targets for aortic disease in Marfan syndrome
7. Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples
8. Minocycline Attenuates Excessive DNA Damage Response and Reduces Ectopic Calcification in Pseudoxanthoma Elasticum
9. Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
10. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
11. IRF2BPL Is Associated with Neurological Phenotypes
12. Comprehensive validation of a diagnostic strategy for sequencing genes with one or multiple pseudogenes using pseudoxanthoma elasticum as a model
13. Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
14. New insights on the clinical variability of FKBP10 mutations
15. A clinical scoring system for congenital contractural arachnodactyly
16. Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development
17. Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies
18. Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy
19. A mild form of Stickler syndrome type II caused by mosaicism of COL11A1
20. Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos
21. Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions
22. A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation
23. Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing
24. Inorganic Pyrophosphate Plasma Levels Are Decreased in Pseudoxanthoma Elasticum Patients and Heterozygous Carriers but Do Not Correlate with the Genotype or Phenotype
25. Zebrafish Tric-b is required for skeletal development and bone cells differentiation
26. Identification of modifier genes underlying intra-familial phenotypic variability in zebrafish OI models using whole exome sequencing and linkage analysis
27. Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for Osteogenesis Imperfecta
28. BATCH-GE: Analysis of NGS Data for Genome Editing Assessment
29. Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
30. Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
31. G protein–coupled receptor kinase 6 (GRK6) regulates insulin processing and secretion via effects on proinsulin conversion to insulin
32. Correcting a PLCζ Mutation in the Human Germ Line to Overcome Hereditary Infertility
33. Review for "Functional testing of BMP pathway variants identified on whole exome sequencing in a patient with delayed‐onset fibrodysplasia ossificans progressiva ( FOP ) usingACVR1R206H‐specific human cellular and zebrafish models"
34. Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA
35. Hypergastrinemia, a clue leading to the identification of an atypical form of diabetes mellitus type 2
36. Genetic study of non‐syndromic tooth agenesis through the screening of paired box 9, msh homeobox 1, axin 2, and Wnt family member 10A genes: a case‐series
37. Correction: Arterial tortuosity syndrome: 40 new families and literature review
38. Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families
39. Generation of a human induced pluripotent stem cell line UGENTi002-A from an arrhythmogenic cardiomyopathy patient carrying the c.817C>T DSP heterozygous variant and isogenic control using CRISPR/Cas9 editing
40. Serum Calcification Propensity T50 Associates with Disease Severity in Patients with Pseudoxanthoma Elasticum
41. Genome-Wide Epistasis for Cardiovascular Severity in Marfan Study Design: Patient Organization Driven Research
42. High myopia and vitreal veils in a patient with Poretti– Boltshauser syndrome due to a novel homozygous LAMA1 mutation
43. The sqstm1tmΔUBA zebrafish model, a proof-of-concept in vivo model for Paget’s disease of bone?
44. G Protein‐Coupled Receptor Kinase 6 (GRK6) Regulation of Insulin Processing and Secretion
45. Crispant screening in zebrafish as a promising approach for rapid functional screening of osteoporosis candidate genes
46. Additional file 2 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
47. Crispant screening in zebrafish as a promising approach for rapid functional screening of osteoporosis candidate genes and known genes for Osteogenesis Imperfecta
48. The pseudoxanthoma elasticum zebrafish model contributes to novel pathophysiological insights and therapeutic strategies in ectopic mineralization
49. Additional file 1 of Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)
50. Negative Molecular Diagnostics in Non-Syndromic Hearing Loss: What Next?
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