المؤلفون: Flitcroft, I., Ainsworth, J., Chia, A., Cotter, S., Harb, E., Jin, Z.B., Klaver, C.C.W., Moore, A.T., Nischal, K.K., Ohno-Matsui, K., Paysse, E.A., Repka, M.X., Smirnova, I.Y., Snead, M., Verhoeven, V.J.M., Verkicharla, P.K.

المصدر: Investigative Ophthalmology and Visual Science; 0146-0404; 6; 64; 3; ~Investigative Ophthalmology and Visual Science~~~~~0146-0404~6~64~~3

URL: https://repository.ubn.ru.nl/handle/2066/292367

المؤلفون: Knöpfel, E.B., Vilches, C., Camargo, SMR, Errasti-Murugarren, E., Stäubli, A., Mayayo, C., Munier, F.L., Miroshnikova, N., Poncet, N., Junza, A., Bhattacharya, S.S., Prat, E., Berry, V., Berger, W., Heon, E., Moore, A.T., Yanes, Ó., Nunes, V., Palacín, M., Verrey, F., Kloeckener-Gruissem, B.

المصدر: Frontiers in physiology, vol. 10, pp. 688

مصطلحات موضوعية: amino acid transporters LAT2 and TAT1, cataract, gene expression, mouse model, ocular tissues, patient screen

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/31231240; info:eu-repo/semantics/altIdentifier/pissn/1664-042X; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_33A831DC88A07; https://serval.unil.ch/notice/serval:BIB_33A831DC88A0; https://serval.unil.ch/resource/serval:BIB_33A831DC88A0.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_33A831DC88A0
https://doi.org/10.3389/fphys.2019.00688
https://serval.unil.ch/resource/serval:BIB_33A831DC88A0.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_33A831DC88A07

المؤلفون: Khan, K.N, Robson, A, Mahroo, O.A.R, Arno, G, Inglehearn, C.F, Armengol, M, Waseem, N, Holder, G.E, Carss, K.J, Raymond, L.F, Webster, A.R, Moore, A.T, McKibbin, M, Van Genderen, M.M, Poulter, J.A, Michaelides, M

المساهمون: OPHTHALMOLOGY

المصدر: Unpaywall 20201031

مصطلحات موضوعية: crumbs homologue 1 protein, protein, unclassified drug, CRB1 protein, human, eye protein, membrane protein, nerve protein, adult, allele, Article, clinical article, electronic patient record, female, follow up, genetic association, genetic screening, genotype phenotype correlation, heterozygote, infant, macular degeneration, male, next generation sequencing, ophthalmoscopy, optical coherence tomography, peripheral retina, phenotype, priority journal, retina maculopathy, retrospective study

Relation: Khan, K.N, Robson, A, Mahroo, O.A.R, Arno, G, Inglehearn, C.F, Armengol, M, Waseem, N, Holder, G.E, Carss, K.J, Raymond, L.F, Webster, A.R, Moore, A.T, McKibbin, M, Van Genderen, M.M, Poulter, J.A, Michaelides, M (2018). A clinical and molecular characterisation of CRB1-associated maculopathy. European Journal of Human Genetics 26 (5) : 687-694. ScholarBank@NUS Repository. https://doi.org/10.1038/s41431-017-0082-2; https://scholarbank.nus.edu.sg/handle/10635/179042

الاتاحة: https://scholarbank.nus.edu.sg/handle/10635/179042

المؤلفون: Moran, C., Habeb, A.M., Kahaly, G.J., Kampmann, C., Hughes, M., Marek, J., Rajanayagam, O., Kuczynski, A., Vargha-Khadem, F., Morsy, M., Offiah, A.C., Poole, K., Ward, K., Lyons, G., Halsall, D., Berman, L., Watson, L., Baguley, D., Mollon, J., Moore, A.T., Holder, G.E., Dattani, M., Chatterjee, K.

وصف الملف: text

Relation: https://eprints.whiterose.ac.uk/125575/8/js.2017-00204.pdf; Moran, C., Habeb, A.M., Kahaly, G.J. et al. (20 more authors) (2017) Homozygous Resistance to Thyroid Hormone β: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure? Journal of the Endocrine Society, 1 (9). pp. 1203-1212.

الاتاحة: https://eprints.whiterose.ac.uk/125575/
https://eprints.whiterose.ac.uk/125575/8/js.2017-00204.pdf
https://doi.org/10.1210/js.2017-00204

المؤلفون: Majander, A., Robson, A.G., João, C., Holder, G.E., Chinnery, P.F., Moore, A.T., Votruba, M., Stockman, A., Yu-Wai-Man, P.

المساهمون: National Institute for Health Research Rare Diseases Translational Research Collaboration, National Institute for Health Research Biomedical Research Centre, NIHR Moorfields Clinical Research Facility, BBSRC, Medical Research Council

المصدر: Mitochondrion ; volume 36, page 138-149 ; ISSN 1567-7249

الاتاحة: http://dx.doi.org/10.1016/j.mito.2017.07.006
https://api.elsevier.com/content/article/PII:S1567724917302106?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1567724917302106?httpAccept=text/plain

المؤلفون: Fritsche, L.G. (Lars), Igl, W. (Wilmar), Cooke Bailey, J.N. (Jessica N.), Grassmann, F. (Felix), Sengupta, S. (Sebanti), Bragg-Gresham, J.L. (Jennifer L.), Burdon, K.P. (Kathryn P.), Hebbring, S.J. (Scott J.), Wen, C. (Cindy), Gorski, M. (Mathias), Kim, I.K. (Ivana), Cho, D. (David), Zack, D. (Donald), Souied, E.H. (Eric), Scholl, H.P.N. (Hendrik), Bala, E. (Elisa), ELee, K. (Kristine), Hunter, D. (David), Sardell, R.J. (Rebecca J.), Mitchell, P. (Paul), Merriam, J.E. (Joanna), Cipriani, F. (Francesco), Hoffman, J.D. (Joshua D.), Schick, T. (Tina), Lechanteur, Y.T.E. (Yara T. E.), Guymer, R.H. (Robyn), Johnson, M.P. (Matthew), Jiang, Y., Stanton, C.M. (Chloe), Buitendijk, G.H.S. (Gabrielle), Zhan, X. (Xiaowei), Kwong, A.M. (Alan M.), Boleda, A. (Alexis), Brooks, M. (Matthew), Gieser, L. (Linn), Ratna Priya, R. (Rinki), Branham, K.E. (Kari), Foerster, J.R. (Johanna R.), Heckenlively, J.R. (John), Othman, M.I. (Mohammad), Vote, B.J. (Brendan J.), Liang, H.H. (Helena Hai), Souzeau, E. (Emmanuelle), McAllister, I.L. (Ian L.), Isaacs, T. (Timothy), Hall, J. (Janette), Lake, S. (Stewart), Mackey, D.A. (David), Constable, I.J. (Ian J.), Craig, J.E. (Jamie E.), Kitchner, T.E. (Terrie E.), Yang, Z. (Zhenglin), Su, Z. (Zhiguang), Luo, H. (Hongrong), Chen, D. (Daniel), Ouyang, H. (Hong), Flagg, K. (Ken), Lin, D. (Danni), Mao, G. (Guanping), Ferreyra, H.A. (Henry), Stark, K. (Klaus), Strachwitz, C. (Claudia) von, Wolf, A. (Armin), Brandl, C. (Caroline), Rudolph, G. (Guenther), Olden, M. (Matthias), Morrison, M.A. (Margaux), Morgan, D.J. (Denise), Schu, M. (Matthew), Ahn, J. (Jeeyun), Silvestri, G. (Giuliana), Tsironi, E.E. (Evangelia), Park, K.H. (Kyu Hyung), Farrer, L.A. (Lindsay), Orlin, A. (Anton), Brucker, A. (Alexander), Curcio, C.A. (Christine A.), Mohand-Sa'd, S. (Saddek), Sahel, J.-A. (José-Alain), Audo, I. (Isabelle), Benchaboune, M. (Mustapha), Cree, A.J. (Angela), Rennie, C.A. (Christina A.), Goverdhan, S.V. (Srinivas V.), Grunin, M. (Michelle), Hagbi-Levi, S. (Shira), Campochiaro, B. (Betsy), Katsanis, N. (Nicholas), Holz, F.G. (Frank), Blond, F. (Frédéric), Blanché, H. (Hél'ne), Deleuze, J.-F. (Jean-Fran'ois), Igo Jr., R.P. (Robert), Truitt, B.J. (Barbara), Peachey, N.S. (Neal ), Meuer, S.M. (Stacy), Myers, C.E. (Chelsea), Moore, E.L. (Emily L.), Klein, R. (Ronald), Hauser, M.A. (Michael), Postel, E.A. (Eric), Courtenay, M.D. (Monique D.), Schwartz, S.M. (Stephen), Kovach, J.L. (Jaclyn), Scott, W.K. (William), Liew, G. (Gerald), Tan, A.G. (Ava G.), Gopinath, B. (Bamini), Smith, T. (Tim), Khan, J.C. (Jane), Shahid, M. (Mohammad), Moore, A.T. (Anthony), McGrath, J.A. (J Allie), Laux, R. (Reneé), Brantley, M.A. (Milam), Agarwal, A. (Anita), Ersoy, L. (Lebriz), Caramoy, A. (Albert), Langmann, T. (Thomas), Saksens, N.T.M. (Nicole T.), Jong, E.K. (Eiko Kde), Hoyng, C.B. (Carel), Cain, M.S. (Melinda), Richardson, A.J. (Andrea), Martin, T.M. (Tammy M.), Blangero, J. (John), Weeks, D.E. (Daniel), Dhillon, B. (Bal), Duijn, C.M. (Cornelia) van, Doheny, K.F. (Kimberly), Romm, J. (Jane), Klaver, C.C.W. (Caroline), Hayward, C. (Caroline), Gorin, M.B. (Michael B.), Klein, M.L. (Michael), Baird, P.N. (Paul), Hollander, A.I. (Anneke), Fauser, S. (Sascha), WYates, J.R. (John R.), Allikmets, R. (Rando), Wang, J.J. (Jie Jin), Schaumberg, D.A. (Debra), Klein, B.E.K. (Barbara), Hagstrom, S.A. (Stephanie), Chowers, Y. (Yehuda), Lotery, A.J. (Andrew), Léveillard, T. (Thierry), Zhang, K. (Kang), Brilliant, M.H. (Murray H.), Hewit, A.W. (Alex), Swaroop, A. (Anand), Chew, E.Y. (Emily Y.), Pericak-Vance, M.A. (Margaret), DeAngelis, M.M. (Margaret), Stambolian, D. (Dwight), Haines, J.L. (Jonathan), Iyengar, S.K. (Sudha), Weber, B.H.F. (Bernhard), Abecasis, G.R. (Gonçalo), Heid, I.M. (Iris), Li, M. (Mingyao)

المصدر: Nature Genetics vol. 48 no. 2, pp. 134-143

Relation: http://repub.eur.nl/pub/96968; urn:hdl:1765/96968

الاتاحة: http://repub.eur.nl/pub/96968
https://doi.org/10.1038/ng.3448

المؤلفون: Michaelides, M., Gaillard, M.C., Escher, P., Tiab, L., Bedell, M., Borruat, F.X., Barthelmes, D., Carmona, R., Zhang, K., White, E., McClements, M., Robson, A.G., Holder, G.E., Bradshaw, K., Hunt, D.M., Webster, A.R., Moore, A.T., Schorderet, D.F., Munier, F.L.

المصدر: Investigative Ophthalmology and Visual Science, vol. 51, no. 9, pp. 4771-4780

مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Antigens, CD/genetics, Family Health, Female, Fovea Centralis/pathology, Genes, Dominant, Glycoproteins/genetics, Humans, Male, Middle Aged, Pedigree, Peptides/genetics, Phenotype, Point Mutation, Retinal Cone Photoreceptor Cells/pathology, Retinal Rod Photoreceptor Cells/pathology, Retinitis Pigmentosa/ethnology, Retinitis Pigmentosa/genetics, Tomography, Optical Coherence, Young Adult

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/20393116; info:eu-repo/semantics/altIdentifier/pissn/1552-5783[electronic], 0146-0404[linking]; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8CA3332522F19; https://serval.unil.ch/notice/serval:BIB_8CA3332522F1; https://serval.unil.ch/resource/serval:BIB_8CA3332522F1.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_8CA3332522F1
https://doi.org/10.1167/iovs.09-4561
https://serval.unil.ch/resource/serval:BIB_8CA3332522F1.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8CA3332522F19

المؤلفون: Yang, Z., Chen, Y., Lillo, C., Chien, J., Yu, Z., Michaelides, M., Klein, M., Howes, K.A., Li, Y., Kaminoh, Y., Chen, H., Zhao, C., Al-Sheikh, Y.T., Karan, G., Corbeil, D., Escher, P., Kamaya, S., Li, C., Johnson, S., Frederick, J.M., Zhao, Y., Wang, C., Cameron, D.J., Huttner, W.B., Schorderet, D.F., Munier, F.L., Moore, A.T., Birch, D.G., Baehr, W., Hunt, D.M., Williams, D.S., Zhang, K.

المصدر: Journal of Clinical Investigation, vol. 118, no. 8, pp. 2908-29016

مصطلحات موضوعية: Animals, Antigens, CD/genetics, CD/metabolism, Cadherins/metabolism, Electroretinography, Glycoproteins/genetics, Glycoproteins/metabolism, Humans, Macular Degeneration/genetics, Macular Degeneration/physiopathology, Mice, Transgenic, Microfilaments/metabolism, Morphogenesis, Mutation, Missense, Nerve Tissue Proteins/metabolism, Peptides/genetics, Peptides/metabolism, Photoreceptor Cells, Vertebrate/metabolism, Vertebrate/ultrastructure

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/18654668; info:eu-repo/semantics/altIdentifier/pissn/0021-9738; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_790E836A2CAF6; https://serval.unil.ch/notice/serval:BIB_790E836A2CAF; https://serval.unil.ch/resource/serval:BIB_790E836A2CAF.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_790E836A2CAF
https://doi.org/10.1172/JCI35891
https://serval.unil.ch/resource/serval:BIB_790E836A2CAF.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_790E836A2CAF6

المؤلفون: Strunz T., Lauwen S., Kiel C., Fritsche L.G., Igl W., Bailey J.N.C., Grassmann F., Sengupta S., Bragg-Gresham J.L., Burdon K.P., Hebbring S.J., Wen C., Gorski M., Kim I.K., Cho D., Zack D., Souied E., Scholl H.P.N., Bala E., Lee K.E., Hunter D.J., Sardell R.J., Mitchell P., Merriam J.E., Cipriani V., Hoffman J.D., Schick T., Lechanteur Y.T.E., Guymer R.H., Johnson M.P., Jiang Y., Stanton C.M., Buitendijk G.H.S., Zhan X., Kwong A.M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K.E., Foerster J.R., Heckenlively J.R., Othman M.I., Vote B.J., Liang H.H., Souzeau E., McAllister I.L., Isaacs T., Hall J., Lake S., Mackey D.A., Constable I.J., Craig J.E., Kitchner T.E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., Strachwitz C.N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M.A., Morgan D.J., Schu M., Ahn J., Silvestri G., Tsironi E.E., Park K.H., Farrer L.A., Orlin A., Brucker A., Li M., Curcio C., Mohand-Saïd S., Sahel J.-A., Audo I., Benchaboune M., Cree A.J., Rennie C.A., Goverdhan S.V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F.G., Blond F., Blanché H., Deleuze J.-F., Igo R.P., Jr., Truitt B., Peachey N.S., Meuer S.M., Myers C.E., Moore E.L., Klein R., Hauser M.A., Postel E.A., Courtenay M.D., Schwartz S.G., Kovach J.L., Scott W.K., Liew G., Tfan A.G., Gopinath B., Merriam J.C., Smith R.T., Khan J.C., Shahid H., Moore A.T., McGrath J.A., Laux R., Brantley M.A., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N.T.M., Jong E.K., Hoyng C.B., Cain M.S., Richardson A.J., Martin T.M., Blangero J., Weeks D.E., Dhillon B., Duijn C.M., Doheny K.F., Romm J., Klaver C.C.W., Hayward C., Gorin M.B., Klein M.L., Baird P.N., Hollander A.I., Fauser S., Yates J.R.W., Allikmets R., Wang J.J., Schaumberg D.A., Klein B.E.K., Hagstrom S.A., Chowers I., Lotery A.J., Léveillard T., Zhang K., Brilliant M.H., Hewitt A.W., Swaroop A., Chew E.Y., Pericak-Vance M.A., DeAngelis M., Stambolian D., Haines J.L., Iyengar S.K., Weber B.H.F., Abecasis G.R., Heid I.M., Hollander A., International AMD Genomics Consortium (IAMDGC)

المصدر: Scientific Reports ; https://www.scopus.com/inward/record.uri?eid=2-s2.0-85078851693&doi=10.1038%2fs41598-020-58510-9&partnerID=40&md5=1f299c56be2191781072cefdb9d2bafb

مصطلحات موضوعية: transcriptome, gene, gene expression profiling, gene regulatory network, genetic predisposition, genetics, genome-wide association study, human, macular degeneration, Gene Regulatory Networks, Genes, Genetic Predisposition to Disease, Humans, Nature Research

Relation: http://hdl.handle.net/11615/79512

الاتاحة: http://hdl.handle.net/11615/79512
https://doi.org/10.1038/s41598-020-58510-9

المؤلفون: Brooks, S.P., Ebenezer, N.D., Poopalasundaram, S., Lehmann, O.J., Moore, A.T., Hardcastle, A.J.

المصدر: Journal of Medical Genetics , 41 (10) pp. 768-771. (2004)

مصطلحات موضوعية: Nance-Horan syndrome, cataract, Xp22, paralog

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/7291/1/7291.pdf; https://discovery.ucl.ac.uk/id/eprint/7291/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/7291/1/7291.pdf
https://discovery.ucl.ac.uk/id/eprint/7291/

المؤلفون: Reddy, M.A., Bateman, O.A., Chakarova, C., Ferris, J., Berry, V., Lomas, E., Sarra, R., Smith, M.A., Moore, A.T., Bhattacharya, S.S., Slingsby, C.

مصطلحات موضوعية: ARTICLES

وصف الملف: text/html

Relation: http://hmg.oxfordjournals.org/cgi/content/short/13/9/945; http://dx.doi.org/10.1093/hmg/ddh110

الاتاحة: http://hmg.oxfordjournals.org/cgi/content/short/13/9/945
https://doi.org/10.1093/hmg/ddh110

المؤلفون: Jurkute, N., Leu, C., Pogoda, H.M., Arno, G., Robson, A.G., Nürnberg, G., Altmüller, J., Thiele, H., Motameny, S., Toliat, M.R., Powell, K., Höhne, W., Michaelides, M., Webster, A.R., Moore, A.T., Hammerschmidt, M., Nürnberg, P., Yu-Wai-Man, P., Votruba, M.

مصطلحات موضوعية: Technology Platforms

Relation: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration. Jurkute, N. and Leu, C. and Pogoda, H.M. and Arno, G. and Robson, A.G. and Nürnberg, G. and Altmüller, J. and Thiele, H. and Motameny, S. and Toliat, M.R. and Powell, K. and Höhne, W. and Michaelides, M. and Webster, A.R. and Moore, A.T. and Hammerschmidt, M. and Nürnberg, P. and Yu-Wai-Man, P. and Votruba, M. Annals of Neurology 86 (3): 368-383. September 2019

الاتاحة: http://edoc.mdc-berlin.de/20578/
https://edoc.mdc-berlin.de/20578/
https://doi.org/10.1002/ana.25550

المؤلفون: Kelsell, R.E., Godley, B.F., Evans, K., Gregory, C.Y., Plant, C., Tiffin, P.A.C., Bird, A.C., Moore, A.T., Hunt, D.M.

المصدر: Vision Research ; volume 35, page S224 ; ISSN 0042-6989

الاتاحة: http://dx.doi.org/10.1016/0042-6989(95)90638-x
https://api.elsevier.com/content/article/PII:004269899590638X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:004269899590638X?httpAccept=text/plain

المؤلفون: Lambertus, S., Bax, N.M., Fakin, A., Groenewoud, J.M.M., Klevering, B.J., Moore, A.T., Michaelides, M., Webster, A.R., Wilt, G.J. van der, Hoyng, C.B.

المصدر: PLoS One, 12, 3

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders RIHS: Radboud Institute for Health Sciences, Radboudumc 13: Stress-related disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/170497/170497.pdf; http://hdl.handle.net/2066/170497

الاتاحة: http://hdl.handle.net/2066/170497
https://repository.ubn.ru.nl//bitstream/handle/2066/170497/170497.pdf
https://doi.org/10.1371/journal.pone.0174020

المؤلفون: Arno, G., Hull, S., Carss, K., Dev-Borman, A., Chakarova, C., Bujakowska, K., Born, I. van den, Robson, A.G., Holder, G.E., Michaelides, M., Cremers, F.P., Pierce, E., Raymond, F.L., Moore, A.T., Webster, A.R.

المصدر: Investigative Ophthalmology and Visual Science, 57, 11, pp. 4806-4813

مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/168098/168098.pdf; http://hdl.handle.net/2066/168098; https://doi.org/10.1167/iovs.16-19687

الاتاحة: http://hdl.handle.net/2066/168098
https://repository.ubn.ru.nl//bitstream/handle/2066/168098/168098.pdf
https://doi.org/10.1167/iovs.16-19687

المؤلفون: Khan, K.N., Chana, R., Ali, N., Wright, G., Webster, A.R., Moore, A.T., Michaelides, M.

المساهمون: Fight for Sight UK, Foundation Fighting Blindness

المصدر: Clinical Genetics ; volume 91, issue 1, page 38-45 ; ISSN 0009-9163 1399-0004

الاتاحة: http://dx.doi.org/10.1111/cge.12798
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fcge.12798
https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.12798

المؤلفون: Kloeckener-Gruissem, B, Zuercher, J., Neidhardt, J., Magyar, I., Moore, A.T., Bhattacharya, S., Heon, E., Munier, F., Schorderet, D.F., Berger, W.

المصدر: Investigative Ophthalmology and Visual Science, vol. 51

Relation: https://serval.unil.ch/notice/serval:BIB_56AEC7ECC3BC

الاتاحة: https://serval.unil.ch/notice/serval:BIB_56AEC7ECC3BC

المؤلفون: Kohl, S., Zobor, D., Chiang, W.C., Weisschuh, N., Staller, J., Menendez, I.G., Chang, S., Beck, S.C., Garrido, M.G., Sothilingam, V., Seeliger, M.W., Stanzial, F., Benedicenti, F., Inzana, F., Héon, E., Vincent, A., Beis, J., Strom, T.M., Rudolph, G., Roosing, S., Hollander, A.I., Cremers, F.P., Lopez, I., Ren, H., Moore, A.T., Webster, A.R., Michaelides, M., Koenekoop, R.K., Zrenner, E., Kaufman, R.J., Tsang, S.H., Wissinger, B., Lin, J.H.

المصدر: Nat. Genet. 47, 757-765 (2015)

Relation: info:eu-repo/semantics/altIdentifier/pmid/26029869; info:eu-repo/semantics/altIdentifier/wos/WOS:000357090300012; info:eu-repo/semantics/altIdentifier/isbn/1061-4036; info:eu-repo/semantics/altIdentif

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=45069
https://doi.org/10.1038/ng.3319

المؤلفون: Acheson, James F., Adams, G.G.W., Amure, Larry, Andrews, Richard, Barton, Keith, Bates, Adam, Bird, Alan C., Bloom, Jill, Brookes, John, Burton, Ben J.L., Collin, Richard O., Cook, Helen L., Cunningham, Carol, Cruz, Lyndon Da, Dandekar, Samantha, Dart, John K.G., Egan, Catherine, Ehrlich, Daniel P., El-Amir, Ahmed N., Foster, Paul J., Franks, Wendy, Gartry, David, Garway-Heath, Ted, Goh, David, Gregor, Zdenek J., Hardy, Thomas, Hart, Richard H., Henderson, Hugo, Holder, Graham E., Hungerford, John L., Jackson, Timothy L., Jain, Rajni, Khaw, Peng T., Lightman, Susan L., Lim, Natasha, Macalister, Graham, Manzouri, Bita, Martin, Keith, McCarry, Bernadette, McElhatton, Patricia, Merriman, Michael, Michaelides, Michel, Mohammed, Moin, Moore, A.T., Mruthyunjaya, Prithvi, Murdoch, Ian, Nambiar, Anil, Nolan, Winifred, Okhravi, Narciss, Pavesio, Carlos E.

المصدر: Moorfields Manual of Ophthalmology ; page xiii-xviii ; ISBN 9781416025726

الاتاحة: http://dx.doi.org/10.1016/b978-1-4160-2572-6.50002-2
https://api.elsevier.com/content/article/PII:B9781416025726500022?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:B9781416025726500022?httpAccept=text/plain

المؤلفون: Halford, S., Liew, G., Mackay, D.S., Sergouniotis, P.I., Holt, R., Broadgate, S., Volpi, E., Ocaka, L., Robson, A.G., Holder, G.E., Moore, A.T., Michaelides, M., Webster, A.R.

وصف الملف: application/pdf

Relation: https://westminsterresearch.westminster.ac.uk/download/03c45374754a93ab1d86c0b1150d33b4c18761460b126bd6bd12ae0afdc93360/1883986/Halford%20Liew%20et%20al.%20Final%20submitted%20pdf%20%28003%29.pdf; https://doi.org/10.1016/j.ophtha.2013.11.042; Halford, S., Liew, G., Mackay, D.S., Sergouniotis, P.I., Holt, R., Broadgate, S., Volpi, E., Ocaka, L., Robson, A.G., Holder, G.E., Moore, A.T., Michaelides, M. and Webster, A.R. 2014. Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. Ophtalmology. 121 (6), pp. 1174-1184. https://doi.org/10.1016/j.ophtha.2013.11.042

الاتاحة: https://westminsterresearch.westminster.ac.uk/item/9560z/detailed-phenotypic-and-genotypic-characterization-of-bietti-crystalline-dystrophy
https://westminsterresearch.westminster.ac.uk/download/03c45374754a93ab1d86c0b1150d33b4c18761460b126bd6bd12ae0afdc93360/1883986/Halford%20Liew%20et%20al.%20Final%20submitted%20pdf%20%28003%29.pdf
https://doi.org/10.1016/j.ophtha.2013.11.042