المؤلفون: Davidson, AE, Liskova, P, Evans, CJ, Dudakova, L, Nosková, L, Pontikos, N, Hartmannová, H, Hodaňová, K, Stránecký, V, Kozmík, Z, Levis, HJ, Idigo, N, Sasai, N, Maher, GJ, Bellingham, J, Veli, N, Ebenezer, ND, Cheetham, ME, Daniels, JT, Thaung, CM, Jirsova, K, Plagnol, V, Filipec, M, Kmoch, S, Tuft, SJ, Hardcastle, AJ

المصدر: American Journal of Human Genetics , 98 (1) pp. 75-89. (2016)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1476569/1/1-s2.0-S0002929715004899-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1476569/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1476569/1/1-s2.0-S0002929715004899-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1476569/

المؤلفون: Liskova, P, Gwilliam, R, Filipec, M, Jirsova, K, Reinstein Merjava, S, Deloukas, P, Webb, TR, Bhattacharya, SS, Ebenezer, ND, Morris, AG, Hardcastle, AJ

المصدر: PLoS One , 7 (9) , Article e45495. (2012)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1377379/1/1377379.pdf; https://discovery.ucl.ac.uk/id/eprint/1377379/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1377379/1/1377379.pdf
https://discovery.ucl.ac.uk/id/eprint/1377379/

المؤلفون: Zito, I, Downes, SM, Patel, RJ, Cheetham, ME, Ebenezer, ND, Jenkins, SA, Bhattacharya, SS, Webster, AR, Holder, GE, Bird, AC, Bamiou, DE, Hardcastle, AJ

المصدر: J MED GENET , 40 (8) 609 - 615. (2003)

مصطلحات موضوعية: PRIMARY CILIARY DYSKINESIA, LEBER CONGENITAL AMAUROSIS, NUCLEOTIDE-EXCHANGE FACTOR, USHER-SYNDROME, IMMOTILE-CILIA, NASAL CILIA, CYTOPLASMIC DYNEIN, POSITIONAL CLONING, LIGHT-CHAINS, EXON ORF15

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/7292/1/7292.pdf; https://discovery.ucl.ac.uk/id/eprint/7292/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/7292/1/7292.pdf
https://discovery.ucl.ac.uk/id/eprint/7292/

المؤلفون: Murray, S, Halford, S, Ebenezer, ND, Gregory-Evans, CY, Bhattacharya, SS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::20286caec76a04e5bd8827bbb2cd8695
https://ora.ox.ac.uk/objects/uuid:6969f7ff-2bf1-4d3c-8030-6411b4ba29ae

المؤلفون: Gardner, JC, Webb, TR, Kanuga, N, Robson, AG, Holder, GE, Stockman, A, Ripamonti, C, Ebenezer, ND, Ogun, O, Devery, S, Wright, GA, Maher, ER, Cheetham, ME, Moore, AT, Michaelides, M, Hardcastle, AJ

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmed/

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Amino Acid Sequence, Chromosomes, Human, Cone Opsins, Female, Genetic Association Studies, Genetic Diseases, X-Linked, Genetic Linkage, Genetic Loci, Haplotypes, Humans, Lod Score, Male, Middle Aged, Molecular Sequence Data, Mutation, Missense, Pedigree, Protein Structure, Secondary, Retinal Cone Photoreceptor Cells, Retinal Diseases

وصف الملف: metadata

Relation: AM J HUM GENET, 2010, 87 (1), pp. 26-39; http://hdl.handle.net/2381/26431; S0002-9297(10)00303-4

الاتاحة: http://hdl.handle.net/2381/26431
https://doi.org/10.1016/j.ajhg.2010.05.019

المؤلفون: Gardner, JC, Webb, TR, Kanuga, N, Robson, AG, Holder, GE, Stockman, A, Ripamonti, C, Ebenezer, ND, Ogun, O, Devery, S, Wright, GA, Maher, ER, Cheetham, ME, Moore, AT, Michaelides, M, Hardcastle, AJ

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmed/

مصطلحات موضوعية: Adolescent, Adult, Aged, 80 and over, Chromosomes, Human, Color Vision Defects, Family Health, Humans, Male, Middle Aged, Mutation, Missense, Phenotype, Retinal Cone Photoreceptor Cells, Retinal Dystrophies, Rod Opsins, Young Adult

وصف الملف: metadata

Relation: ADV EXP MED BIOL, 2012, 723, pp. 595-601; http://hdl.handle.net/2381/11664

الاتاحة: http://hdl.handle.net/2381/11664
https://doi.org/10.1007/978-1-4614-0631-0_76