المؤلفون: Gargiulo, A, Testa, F, Rossi, S, Di Iorio, V, Fecarotta, S, de Berardinis, T, Iovine, A, Magli, A, Signorini, S, Galantuomo, Ms, Fossarello, M, Montefusco, S, Ciccodicola, A, Neri, A, Macaluso, C, Simonelli, F, Surace, Em, FAZZI, Elisa Maria

المساهمون: Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Magli A, Signorini S, Fazzi Elisa Maria, Galantuomo M, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace Em

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000288965300011; volume:52 (3); firstpage:1281; lastpage:1289; numberofpages:9; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11379/47477; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79955937460

الاتاحة: http://hdl.handle.net/11379/47477

المؤلفون: Yamada, K, Chan, WM, Andrews, C, Bosley, TM, Sener, EC, Zwaan, JT, Mullaney, PB, Ozturk, BT, Akarsu, AN, Sabol, LJ, Demer, JL, Sullivan, TJ, Gottlob, I, Roggenkaemper, P, Mackey, DA, de Uzcategui, CE, Uzcategui, N, Ben-Zeev, B, Traboulsi, EI, Magli, A, de Berardinis, T, Gagliardi, V, Awasthi-Patney, S, Vogel, MC, Rizzo, JF, Engle, EC

المساهمون: Çocuk Sağlığı ve Hastalıkları

مصطلحات موضوعية: Ophthalmology

وصف الملف: text/plain; application/pdf

Relation: Investigative Ophthalmology & Visual Science; https://doi.org/10.1167/iovs.03-1413; http://hdl.handle.net/11655/14083; 45; 2218; 2223

الاتاحة: http://hdl.handle.net/11655/14083
https://doi.org/10.1167/iovs.03-1413

المؤلفون: Calace, P., Cortese, G., Piscopo, R., Della Volpe, G., Gagliardi, V., Magli, A., De Berardinis, T.

المصدر: European Journal of Ophthalmology ; volume 13, issue 4, page 331-336 ; ISSN 1120-6721 1724-6016

الاتاحة: https://doi.org/10.1177/112067210301300401
https://journals.sagepub.com/doi/pdf/10.1177/112067210301300401

المؤلفون: Gargiulo A, Testa F, Rossi S, Di Iorio V, Fecarotta S, de Berardinis T, Iovine A, Signorini S, Fazzi E, Galantuomo MS, Fossarello M, Montefusco S, Ciccodicola A, Neri A, Macaluso C, Simonelli F, Surace E.M., MAGLI, Adriano

المساهمون: Gargiulo, A, Testa, F, Rossi, S, Di Iorio, V, Fecarotta, S, de Berardinis, T, Iovine, A, Magli, Adriano, Signorini, S, Fazzi, E, Galantuomo, M, Fossarello, M, Montefusco, S, Ciccodicola, A, Neri, A, Macaluso, C, Simonelli, F, Surace, E. M.

Relation: firstpage:1281; lastpage:1289; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11386/3121451

الاتاحة: http://hdl.handle.net/11386/3121451

المؤلفون: Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Schiavi C, Pastore Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle E.C., MAGLI, Adriano

المساهمون: Tischfield, Ma, Baris, Hn, Wu, C, Rudolph, G, Van Maldergem, L, He, W, Chan, Wm, Andrews, C, Demer, Jl, Robertson, Rl, Mackey, Da, Ruddle, Jb, Bird, Td, Gottlob, I, Pieh, C, Traboulsi, Ei, Pomeroy, Sl, Hunter, Dg, Soul, J, Newlin, A, Sabol, Lj, Doherty, Ej, de Uzcátegui, Ce, de Uzcátegui, N, Collins, Ml, Sener, Ec, Wabbels, B, Hellebrand, H, Meitinger, T, de Berardinis, T, Magli, Adriano, Schiavi, C, Pastore Trossello, M, Koc, F, Wong, Am, Levin, Av, Geraghty, Mt, Descartes, M, Flaherty, M, Jamieson, Rv, Møller, Hu, Meuthen, I, Callen, Df, Kerwin, J, Lindsay, S, Meindl, A, Gupta ML, Jr, Pellman, D, Engle, E. C.

Relation: firstpage:74; lastpage:87; journal:CELL; http://hdl.handle.net/11386/3121441

الاتاحة: http://hdl.handle.net/11386/3121441

المؤلفون: Ginocchio VM, De Brasi D, Genesio R, Ciccone R, Gimelli S, Fimiani F, de Berardinis T, Nitsch L, Banfi S, Della Casa R., MAGLI, Adriano

المساهمون: Ginocchio, Vm, De Brasi, D, Genesio, R, Ciccone, R, Gimelli, S, Fimiani, F, de Berardinis, T, Nitsch, L, Banfi, S, Magli, Adriano, Della Casa, R.

Relation: firstpage:658; lastpage:665; journal:EUROPEAN JOURNAL OF MEDICAL GENETICS; http://hdl.handle.net/11386/3121447

الاتاحة: http://hdl.handle.net/11386/3121447

المؤلفون: Cesarelli, Mario, Bifulco, P., Romano, M., Pasquariello, G., Fratini, A., Loffredo, L., Magli, A., De Berardinis, T., Boccuzzi, D.

المصدر: 11th Mediterranean Conference on Medical and Biomedical Engineering and Computing 2007 ; IFMBE Proceedings ; page 426-429 ; ISBN 9783540730439 9783540730446

الاتاحة: http://dx.doi.org/10.1007/978-3-540-73044-6_109
http://link.springer.com/content/pdf/10.1007/978-3-540-73044-6_109.pdf

المؤلفون: MAGLI, Adriano, Vastarella P, De Berardinis T, D'Esposito F, Santoro L, Orsini A, Nucciotti R.

المساهمون: Magli, Adriano, Vastarella, P, De Berardinis, T, D'Esposito, F, Santoro, L, Orsini, A, Nucciotti, R.

Relation: info:eu-repo/semantics/altIdentifier/isbn/0849389615; ispartofbook:Update on strabismus and pediatric ophthalmology.; firstpage:121; lastpage:124; http://hdl.handle.net/11386/3319477

الاتاحة: http://hdl.handle.net/11386/3319477

المؤلفون: Yamada K, Chan WM, Andrews C, Bosley TM, Sener EC, Zwaan JT, Mullaney PB, Oztürk BT, Akarsu AN, Sabol LJ, Demer JL, Sullivan TJ, Gottlob I, Roggenkäemper P, Mackey DA, De Uzcategui CE, Uzcategui N, Ben Zeev B, Traboulsi EI, de Berardinis T, Gagliardi V, Awasthi Patney S, Vogel MC, Rizzo JF 3rd, Engle E.C., MAGLI, Adriano

المساهمون: Yamada, K, Chan, Wm, Andrews, C, Bosley, Tm, Sener, Ec, Zwaan, Jt, Mullaney, Pb, Oztürk, Bt, Akarsu, An, Sabol, Lj, Demer, Jl, Sullivan, Tj, Gottlob, I, Roggenkäemper, P, Mackey, Da, De Uzcategui, Ce, Uzcategui, N, Ben Zeev, B, Traboulsi, Ei, Magli, Adriano, de Berardinis, T, Gagliardi, V, Awasthi Patney, S, Vogel, Mc, Rizzo JF, 3rd, Engle, E. C.

Relation: firstpage:2218; lastpage:2223; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11386/3121443

الاتاحة: http://hdl.handle.net/11386/3121443

المؤلفون: Yamada K, Andrews C, Chan WM, McKeown CA, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, Krawiecki N, Shoffner J, Vogel MC, Katowitz J, Goldstein SM, Levin AV, Sener EC, Ozturk BT, Akarsu AN, Brodsky MC, Hanisch F, Cruse RP, Zubcov AA, Robb RM, Roggenkäemper P, Gottlob I, Kowal L, Battu R, Traboulsi EI, Franceschini P, Newlin A, Demer JL, Engle E.C., MAGLI, Adriano

المساهمون: Yamada, K, Andrews, C, Chan, Wm, Mckeown, Ca, Magli, Adriano, de Berardinis, T, Loewenstein, A, Lazar, M, O'Keefe, M, Letson, R, London, A, Ruttum, M, Matsumoto, N, Saito, N, Morris, L, Del Monte, M, Johnson, Rh, Uyama, E, Houtman, Wa, de Vries, B, Carlow, Tj, Hart, Bl, Krawiecki, N, Shoffner, J, Vogel, Mc, Katowitz, J, Goldstein, Sm, Levin, Av, Sener, Ec, Ozturk, Bt, Akarsu, An, Brodsky, Mc, Hanisch, F, Cruse, Rp, Zubcov, Aa, Robb, Rm, Roggenkäemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, Ei, Franceschini, P, Newlin, A, Demer, Jl, Engle, E. C.

Relation: firstpage:318; lastpage:321; journal:NATURE GENETICS; http://hdl.handle.net/11386/3305281

الاتاحة: http://hdl.handle.net/11386/3305281

المؤلفون: Calace P, Cortese G, Piscopo R, Della Volpe G, Gagliardi V, De Berardinis T., MAGLI, Adriano

المساهمون: Calace, P, Cortese, G, Piscopo, R, Della Volpe, G, Gagliardi, V, Magli, Adriano, De Berardinis, T.

Relation: firstpage:331; lastpage:336; journal:EUROPEAN JOURNAL OF OPHTHALMOLOGY; http://hdl.handle.net/11386/3206078

الاتاحة: http://hdl.handle.net/11386/3206078

المؤلفون: MAGLI, Adriano, de Berardinis T, D'Esposito F, Gagliardi V.

المساهمون: Magli, Adriano, de Berardinis, T, D'Esposito, F, Gagliardi, V.

Relation: firstpage:1; lastpage:7; journal:BMC OPHTHALMOLOGY; http://hdl.handle.net/11386/3205477

الاتاحة: http://hdl.handle.net/11386/3205477

المؤلفون: YAMADA K. ANDREWS C. CHAN WM MCKEOWN CA DE BERARDINIS T. LOEWENSTEIN, ENGLE EC, MAGLI, ADRIANO

المساهمون: YAMADA K. ANDREWS C. CHAN WM MCKEOWN CA DE BERARDINIS T., Loewenstein, Magli, Adriano, Engle, Ec

Relation: volume:35(4); firstpage:318; lastpage:21; journal:NATURE GENETICS; http://hdl.handle.net/11588/149491

الاتاحة: http://hdl.handle.net/11588/149491

المؤلفون: Engle EC, McIntosh N, Yamada K, Lee BA, Johnson R, O'Keefe M, Letson R, London A, Ballard E, Ruttum M, Matsumoto N, Saito N, Collins ML, Morris L, Del Monte M, de Berardinis T., MAGLI, Adriano

المساهمون: Engle, Ec, Mcintosh, N, Yamada, K, Lee, Ba, Johnson, R, O'Keefe, M, Letson, R, London, A, Ballard, E, Ruttum, M, Matsumoto, N, Saito, N, Collins, Ml, Morris, L, Del Monte, M, Magli, Adriano, de Berardinis, T.

Relation: firstpage:1; lastpage:8; journal:BMC GENETICS; http://hdl.handle.net/11386/3305480

الاتاحة: http://hdl.handle.net/11386/3305480

المؤلفون: Tischfield, MA, Baris, HN, Wu, C, Rudolph, G, Van Maldergem L, He, W, Chan, WM, Andrews, C, Demer, JL, Robertson, RL, Mackey, DA, Ruddle, JB, Bird, TD, Gottlob, I, Pieh, C, Traboulsi, EI, Pomeroy, SL, Hunter, DG, Soul, JS, Newlin, A, Sabol, LJ, Doherty, EJ, de Uzcátegui CE, de Uzcátegui N, Collins, ML, Sener, EC, Wabbels, B, Hellebrand, H, Meitinger, T, de Berardinis T, Magli, A, Schiavi, C, Pastore-Trossello, M, Koc, F, Wong, AM, Levin, AV, Geraghty, MT, Descartes, M, Flaherty, M, Jamieson, RV, Møller, HU, Meuthen, I, Callen, DF, Kerwin, J, Lindsay, S, Meindl, A, Gupta, ML, Pellman, D, Engle, EC

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

مصطلحات موضوعية: Amino Acid Sequence, Animals, Axons, Brain, Cell Survival, Child, Developmental Disabilities, Female, Humans, Kinesin, Male, Mice, Inbred C57BL, Microtubules, Models, Molecular, Molecular Sequence Data, Mutation, Missense, Protein Transport, Tubulin

وصف الملف: metadata

Relation: CELL, 2010, 140 (1), pp. 74-87; http://hdl.handle.net/2381/17290; S0092-8674(09)01558-X

الاتاحة: http://hdl.handle.net/2381/17290
https://doi.org/10.1016/j.cell.2009.12.011

المؤلفون: Yamada, K, Andrews, C, Chan, WM, McKeown, CA, Magli, A, de Berardinis T, Loewenstein, A, Lazar, M, O'Keefe, M, Letson, R, London, A, Ruttum, M, Matsumoto, N, Saito, N, Morris, L, Del Monte M, Johnson, RH, Uyama, E, Houtman, WA, de Vries B, Carlow, TJ, Hart, BL, Krawiecki, N, Shoffner, J, Vogel, MC, Katowitz, J, Goldstein, SM, Levin, AV, Sener, EC, Ozturk, BT, Akarsu, AN, Brodsky, MC, Hanisch, F, Cruse, RP, Zubcov, AA, Robb, RM, Roggenkäemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, EI, Franceschini, P, Newlin, A, Demer, JL, Engle, EC

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

مصطلحات موضوعية: Amino Acid Sequence, Child, Female, Fibrosis, Genetic Linkage, Genetic Variation, Heterozygote, Humans, Kinesin, Male, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Oculomotor Muscles, Ophthalmoplegia, Pedigree, Phenotype, Sequence Homology, Amino Acid

وصف الملف: metadata

Relation: NAT GENET, 2003, 35 (4), pp. 318-321; http://hdl.handle.net/2381/17285; ng1261

الاتاحة: http://hdl.handle.net/2381/17285
https://doi.org/10.1038/ng1261

المؤلفون: Tischfield M, Baris H, Wu C, Rudolph G, Van Maldergem L, He W, Chan W, Andrews C, Demer J, Robertson R, Mackey D, Ruddle J, Bird T, Gottlob I, Pieh C, Traboulsi E, Pomeroy S, Hunter D, Soul J, Newlin A, Sabol L, Doherty E, de Uzcátegui C, de Uzcátegui N, Collins M, Sener E, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong A, Levin A, Geraghty M, Descartes M, Flaherty M, Jamieson R, Møller H, Meuthen I, Callen D, Kerwin J, Lindsay S, Meindl A, Gupta M, Pellman D, Engle E

المصدر: Cell, 07-01-2010

Relation: https://eprints.ncl.ac.uk/167143

الاتاحة: https://eprints.ncl.ac.uk/167143

المؤلفون: Tischfield, MA, Baris, HN, Wu, C, Rudolph, G, Van Maldergem, L, He, W, Chan, WM, Andrews, C, Demer, JL, Robertson, RL, David Mackey, Ruddle, JB, Bird, TD, Gottlob, I, Pieh, C, Traboulsi, EI, Pomeroy, SL, Hunter, DG, Soul, JS, Newlin, A, Sabol, LJ, Doherty, EJ, de Uzcategui, CE, de Uzcategui, N, Collins, MLZ, Sener, EC, Wabbels, B, Hellebrand, H, Meitinger, T, de Berardinis, T, Magli, A, Schiavi, C, Pastore-Trossello, M, Koc, F, Wong, AM, Levin, AV, Geraghty, MT, Descartes, M, Flaherty, M, Jamieson, RV, Moller, HU, Meuthen, I, Callen, DF, Kerwin, J, Lindsay, S, Meindl, A, Gupta, ML, Pellman, D, Engle, EC

مصطلحات موضوعية: Vision science, No keyword provided

Relation: 102.100.100/584854; https://figshare.com/articles/journal_contribution/Human_TUBB3_mutations_perturb_microtubule_dynamics_kinesin_interations_and_axon_guidance/22880396

الاتاحة: https://figshare.com/articles/journal_contribution/Human_TUBB3_mutations_perturb_microtubule_dynamics_kinesin_interations_and_axon_guidance/22880396

المؤلفون: MAGLI, Adriano, de Berardinis T., Gagliardi V., Pignalosa G.

المساهمون: Magli, Adriano, de Berardinis, T., Gagliardi, V., Pignalosa, G.

Relation: firstpage:183; lastpage:193; journal:BOLLETTINO DI OCULISTICA; http://hdl.handle.net/11386/3688878

الاتاحة: http://hdl.handle.net/11386/3688878

المؤلفون: Vastarella P., Santorelli F., de Berardinis T., Banfi S., Gasparro Rippa P., MAGLI, Adriano

المساهمون: Vastarella, P., Santorelli, F., de Berardinis, T., Banfi, S., Gasparro Rippa, P., Magli, Adriano

Relation: firstpage:39; lastpage:48; journal:BOLLETTINO DI OCULISTICA; http://hdl.handle.net/11386/3696877

الاتاحة: http://hdl.handle.net/11386/3696877