35 results on '"Coucke, Paul"'
Search Results
2. Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI
3. Maximizing CRISPR/Cas9 phenotype penetrance applying predictive modeling of editing outcomes in Xenopus and zebrafish embryos
4. Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions
5. Publisher Correction: BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
6. Correction: Arterial tortuosity syndrome: 40 new families and literature review
7. Accurate quantification of homologous recombination in zebrafish: brca2 deficiency as a paradigm
8. BATCH-GE: Batch analysis of Next-Generation Sequencing data for genome editing assessment
9. Gene panel sequencing in heritable thoracic aortic disorders and related entities – results of comprehensive testing in a cohort of 264 patients
10. Illumina sequencing of 15 deafness genes using fragmented amplicons
11. Perturbation of specific pro-mineralizing signalling pathways in human and murine pseudoxanthoma elasticum
12. Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
13. Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
14. Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
15. Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis
16. Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype
17. Erratum to: Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
18. Analysing 454 amplicon resequencing experiments using the modular and database oriented Variant Identification Pipeline
19. Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
20. Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients
21. Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region
22. A genome-wide linkage scan for low spinal bone mineral density in a single extended family confirms linkage to 1p36.3
23. Czech dysplasia metatarsal type: another type II collagen disorder
24. Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
25. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin
26. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
27. Defective protein glycosylation in patients with cutis laxa syndrome
28. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
29. Deafness linked to DFNA2: one locus but how many genes?
30. Spectrum of mutations in fucosidosis
31. Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
32. CRASH Syndrome: Clinical Spectrum of Corpus Callosum Hypoplasia, Retardation, Adducted Thumbs, Spastic Paraparesis and Hydrocephalus Due to Mutations in One Single Gene, L1
33. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
34. A duplication in the L1CAM gene associated with X–linked hydrocephalus
35. Molecular study of chromosome 15 in 22 patients with Angelman syndrome
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