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1دورية أكاديمية
المؤلفون: Miguel Barroso‐Gil, Eric Olinger, Simon A. Ramsbottom, Elisa Molinari, Colin G. Miles, John A. Sayer
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
مصطلحات موضوعية: antisense oligonucleotide, CC2D2A, CEP120, ciliopathy, exon skipping, Joubert syndrome, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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2دورية أكاديمية
المؤلفون: Kari-Anne M. Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances Hughes, Stef J.F. Letteboer, Sania Gilani, Kay O. Schink, Trond Stokke, Stefan Geimer, Lotte B. Pedersen, Rachel H. Giles, Anna Akhmanova, Ronald Roepman, John A. Sayer, Sebastian Patzke
المصدر: Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e6 (2019)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2211124719309222Test; https://doaj.org/toc/2211-1247Test
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3دورية أكاديمية
المصدر: F1000Research, Vol 7 (2018)
وصف الملف: electronic resource
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4دورية أكاديمية
المصدر: F1000Research, Vol 7 (2018)
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Elisa Molinari, Shalabh Srivastava, John A. Sayer, Simon A. Ramsbottom
المصدر: F1000Research, Vol 6 (2017)
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Simon A. Ramsbottom, Mary E. Pownall
المصدر: Journal of Developmental Biology, Vol 4, Iss 3, p 23 (2016)
مصطلحات موضوعية: signalling, regulation, heparan sulfate, Hedgehog, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Eric Olinger, Miguel Barroso-Gil, Simon A. Ramsbottom, Elisa Molinari, John A. Sayer, Colin G. Miles
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 12, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicineمصطلحات موضوعية: 0301 basic medicine, antisense oligonucleotide, Meckel syndrome, precision medicine, Gene Expression, Cell Cycle Proteins, 030105 genetics & heredity, Biology, QH426-470, medicine.disease_cause, CC2D2A, Ciliopathies, Joubert syndrome, 03 medical and health sciences, Exon, medicine, CEP120, Genetics, Humans, Genetic Predisposition to Disease, Molecular Biology, Alleles, Genetic Association Studies, Genetics (clinical), Mutation, Genetic heterogeneity, Gene Expression Profiling, Original Articles, Exons, Genetic Therapy, Oligonucleotides, Antisense, medicine.disease, Exon skipping, 3. Good health, Cytoskeletal Proteins, Ciliopathy, Phenotype, 030104 developmental biology, ciliopathy, Genetic Loci, Organ Specificity, Original Article, exon skipping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68480d5caba869463e7550fcfd39dfd2Test
https://doaj.org/article/266582edfac14fc19954305d9954cf83Test -
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المؤلفون: Philip Booth, John A. Sayer, Seamus M. McLafferty, Laura A. Devlin, Kathryn White, Colin G. Miles, Meral Gunay-Aygun, Shalabh Srivastava, Elisa Molinari, Simon A. Ramsbottom, Sumaya Alkanderi
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Nonsense mutation, lcsh:Medicine, Biology, Compound heterozygosity, Joubert syndrome, Article, Retina, Antisense oligonucleotide therapy, 03 medical and health sciences, Exon, 0302 clinical medicine, Ciliogenesis, Cerebellum, medicine, Humans, Abnormalities, Multiple, Cilia, Eye Abnormalities, lcsh:Science, Multidisciplinary, Paediatric kidney disease, Cilium, lcsh:R, Exons, Fibroblasts, Kidney Diseases, Cystic, medicine.disease, Exon skipping, Ciliopathies, Cell biology, Ciliopathy, Protein Transport, 030104 developmental biology, Mechanisms of disease, lcsh:Q, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19fc2779f7c9b1c9b2902fb07b63aa3aTest
http://link.springer.com/article/10.1038/s41598-019-47243-zTest -
9دورية أكاديمية
المؤلفون: Simon A Ramsbottom, Vipul Sharma, Hong Jun Rhee, Lorraine Eley, Helen M Phillips, Hannah F Rigby, Charlotte Dean, Bill Chaudhry, Deborah J Henderson
المصدر: PLoS Genetics, Vol 10, Iss 12, p e1004871 (2014)
العلاقة: https://doi.org/10.1371/journal.pgen.1004871Test; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test; https://doaj.org/article/15d5009c01be42c08a567d264526619aTest
الإتاحة: https://doi.org/10.1371/journal.pgen.1004871Test
https://doaj.org/article/15d5009c01be42c08a567d264526619aTest -
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المؤلفون: Flora Silberman, Laura A. Devlin, Elisa Molinari, Kathryn White, David H. W. Steel, John A. Sayer, Simon A. Ramsbottom, Charline Henry, Sumaya Alkanderi, Sophie Saunier, Colin G. Miles, Shalabh Srivastava
المصدر: Proceedings of the National Academy of Sciences of the United States of America
مصطلحات موضوعية: 0301 basic medicine, Male, Medical Sciences, Adolescent, antisense oligonucleotide therapy, Cell Cycle Proteins, Cep290, 030105 genetics & heredity, Kidney, Joubert syndrome, Retina, 03 medical and health sciences, Cystic kidney disease, Mice, Antigens, Neoplasm, Cerebellum, medicine, Animals, Humans, Abnormalities, Multiple, Eye Abnormalities, cystic kidney, Cells, Cultured, Cystic kidney, Multidisciplinary, business.industry, Cilium, Ciliary transition zone, Nuclear Proteins, Epithelial Cells, Exons, Biological Sciences, Kidney Diseases, Cystic, medicine.disease, Exon skipping, 3. Good health, Ciliopathy, Cytoskeletal Proteins, 030104 developmental biology, ciliopathy, Mutation, Cancer research, business, Kidney disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0126830e44fb3472a8aa56cbccc901fTest
http://europepmc.org/articles/PMC6298104Test