المؤلفون: Jordi Corominas, Laura Whelan, Gwyneth Jane Farrar, Frans P.M. Cremers, Catherina H Z Li, Paul F. Kenna, Susanne Roosing, Carel B. Hoyng, Adrian Dockery, Roly Megaw, Charlie Rowlands, Zeinab Fadaie, L. Ingeborgh van den Born, Christian Gilissen, Jamie M Ellingford, AK Lampe

المصدر: Journal of Medical Genetics, 59, 438-444
Journal of Medical Genetics, 59, 5, pp. 438-444

مصطلحات موضوعية: 0301 basic medicine, Genetics, Proband, BBS1, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Biology, medicine.disease, Compound heterozygosity, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Exon, 030104 developmental biology, 0302 clinical medicine, Retinitis pigmentosa, medicine, Missense mutation, splice, Gene, 030217 neurology & neurosurgery, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bbe0c9a9179a55b8e5062f89977d11aTest
http://hdl.handle.net/2066/251508Test

المؤلفون: Nikki-Maria Koudis, Damian Smedley, Mychel Rpt Morais, Jamie M Ellingford, Antony Adamson, David R. Sherwood, Maryline Fresquet, Anna S. Li, Sandhya Srinivasan, Eric Hastie, Ranjay Jayadev, Richard W. Naylor, Rachel Lennon, Emily Williams, Raymond T. O'Keefe, Jack F. Ingham, Helen M. Stuart, Craig Lawless, Huw B. Thomas, Qiuyi Chi, Siddharth Banka

مصطلحات موضوعية: Basement membrane, Network complexity, medicine.anatomical_structure, biology, ADAMTS, medicine, Computational biology, biology.organism_classification, Gene, Genome, Phenotype, Zebrafish, Function (biology)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5abdb5d7cef4df1add0326719cc4136cTest
https://doi.org/10.1101/2021.10.25.465762Test

المؤلفون: Nicola Whiffin, William G. Newman, Jamie M Ellingford, Gillian I. Rice, Charlie Rowlands, H N Hall, Douglas Agl., Black Gcm., Tracy A Briggs, Algy Taylor, Raymond T. O'Keefe, Simon J. Hubbard, Diana Baralle

مصطلحات موضوعية: symbols.namesake, RNA splicing, Metric (mathematics), Gene expression, Mendelian inheritance, symbols, RNA-Seq, Context (language use), Computational biology, Biology, Gene, Deep sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::02c16066800d24873124b07be26aeac9Test
https://doi.org/10.1101/2021.03.19.21253973Test

المؤلفون: Shalaw R. Sallah, David J. Green, Panagiotis I. Sergouniotis, Simon C. Lovell, Jamie M Ellingford

المصدر: Genes
Volume 11
Issue 2
Green, D J, Sallah, S R, Ellingford, J M, Lovell, S C & Sergouniotis, P I 2020, ' Variability in gene expression is associated with incomplete penetrance in inherited eye disorders ', Genes, vol. 11, no. 2, 179 . https://doi.org/10.3390/genes11020179Test
Genes, Vol 11, Iss 2, p 179 (2020)

مصطلحات موضوعية: 0301 basic medicine, Eye Diseases, Gene Expression, Penetrance, Gene mutation, Genome, Transcriptome, 0302 clinical medicine, Genotype, Databases, Genetic, Gene expression, Genetics(clinical), Inherited retinal disease, Mendelian disorders, Genetics (clinical), Skin, Genetics, education.field_of_study, incomplete penetrance, Brain, Inherited eye disease, Blood, Organ Specificity, inherited retinal disease, symbols, lcsh:QH426-470, Population, Biology, Retina, Article, 03 medical and health sciences, symbols.namesake, Retinal Diseases, variable expressivity, Variable expressivity, Humans, Genetic Predisposition to Disease, education, Gene, Incomplete penetrance, Fibroblasts, inherited eye disease, lcsh:Genetics, 030104 developmental biology, Gene Ontology, Gene Expression Regulation, Mendelian inheritance, Eye disorder, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db8ea5d09a9072175463eb0ba7dff331Test
https://doi.org/10.1101/2020.01.28.915504Test

المؤلفون: Charlie Rowlands, Simon C Ramsden, Christopher O'Callaghan, Kevin Webb, Graeme C.M. Black, Robert A. Hirst, Beatriz Gomes-Silva, Andrew R. Webster, Gavin Arno, Jamie M Ellingford, Claire Hardcastle, Huw B. Thomas, William G. Newman, Jill Clayton-Smith, Raymond T. O'Keefe, Christopher J. Campbell, Glenda M. Beaman, Elizabeth A. Jones, Nicole Gossan

مصطلحات موضوعية: 0303 health sciences, education.field_of_study, business.industry, In silico, Alternative splicing, Population, Context (language use), Computational biology, Biology, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, RNA splicing, Personalized medicine, business, education, Gene, Allele frequency, 030217 neurology & neurosurgery, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35ca12f81dee89eba6fc8f089a338bd4Test

المؤلفون: Jamie M Ellingford, Timothy J. Aitman, Glenda M. Beaman, Miriam J. Smith, Javier Santoyo-Lopez, William G. Newman, Andrew J Wallace, Helen Byers, Fiona Lalloo, D. Gareth Evans, Elke M van Veen, Diana Eccles

مصطلحات موضوعية: endocrine system diseases, Bisulfite sequencing, Methylation, Biology, medicine.disease, Germline, DNA sequencing, CpG site, medicine, Cancer research, Allele, Ovarian cancer, skin and connective tissue diseases, Gene

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3133ccf6f79d3f353859fdb6e0747a7aTest

المؤلفون: Francis L. Munier, Georgia G. Yioti, Carel B. Hoyng, Pietro Farinelli, Sara Balzano, Jamie M Ellingford, Viet H. Tran, Olivier Bonny, Christos Ikonomidis, Sten Andréasson, Veronika Vaclavik, Chris F. Inglehearn, Nicola Bedoni, Lonneke Haer-Wigman, Daniel F. Schorderet, Maria Stefaniotou, Fabien Murisier, Adam P. Booth, Mohammed E El-Asrag, Carlo Rivolta, Konstantinos Nikopoulos, Nathalie M. Bax, Yan Litzistorf, Frans P.M. Cremers, Carmel Toomes, Beryl Royer-Bertrand, Graeme C.M. Black, Caroline C W Klaver, Martin McKibbin, Manir Ali, Alberta A H J Thiadens

المساهمون: Ophthalmology

المصدر: Human Molecular Genetics, 25, 4546-4555
Scopus-Elsevier
Human Molecular Genetics, 25(20), 4546-4555. Oxford University Press
Human molecular genetics, vol. 25, no. 20, pp. 4546-4555
Human Molecular Genetics, 25, 20, pp. 4546-4555

مصطلحات موضوعية: 0301 basic medicine, Retinal degeneration, Male, DNA Mutational Analysis, Gene Expression, medicine.disease_cause, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Mice, 0302 clinical medicine, Testis, Genetics (clinical), Genetics, Mutation, Homozygote, Genetic disorder, General Medicine, Middle Aged, Spermatozoa, Pedigree, medicine.anatomical_structure, Organ Specificity, Sperm Motility, Female, Photoreceptor Cells, Vertebrate, Gene isoform, Adult, Adolescent, Biology, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, medicine, Animals, Humans, Allele, Eye Proteins, Molecular Biology, Gene, Infertility, Male, Aged, Retina, Dystrophy, medicine.disease, Molecular biology, Rats, Disease Models, Animal, 030104 developmental biology, Carrier Proteins, 030217 neurology & neurosurgery, Cone-Rod Dystrophies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86735e0d0550260dadf7eb91ef7e54b7Test