المؤلفون: Atkinson, CS, Brodsky, MC, Hiles, DA, Simon, JW

المصدر: Update on Strabismus and Pediatric Ophthalmology Proceedings of the June, 1994 Joint ISA and AAPO&S Meeting, Vancouver, Canada ; page 475-478 ; ISBN 9781003575207

الاتاحة: https://doi.org/10.1201/9781003575207-132

المؤلفون: Zahra Ali, Chao Xing, Didar Anwar, Kamel Itani, David Weakley, Xin Gong, Juan M Pascual, V Vinod Mootha, Yamada, Andrews C, Chan Wm, Mckeown Ca, Magli A, De Berardinis, Loewenstein A, Lazar M, O &apos, Keefe, M Letson, R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte, Johnson Rh, Uyama E, Houtman, De Wa, Vries, Carlow Tj, Hart Bl, Krawiecki N, Shoffner J, Vogel Mc, Katowitz J Goldstein, S M, Levin Av, Sener Ec, Ozturk Bt, Akarsu An, Brodsky Mc, Hanisch F, Cruse Rp, Zubcov Aa, Roggenkaemper P, Gottlob I, Kowal L Robb Rm, Battu R, Traboulsi Ei, Franceshini P, Newlin A, Demer Jl, Engle Ec

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.molvis.org/molvis/v20/368/mv-v20-368.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1075.1406; http://www.molvis.org/molvis/v20/368/mv-v20-368.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1075.1406
http://www.molvis.org/molvis/v20/368/mv-v20-368.pdf

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: Tarpey, P, Thomas, S, Sarvananthan, N, Mallya, U, Lisgo, S, Talbot, CJ, Roberts, EO, Awan, M, Surendran, M, McLean, RJ, Reinecke, RD, Langmann, A, Lindner, S, Koch, M, Jain, S, Woodruff, G, Gale, RP, Degg, C, Droutsas, K, Asproudis, I, Zubcov, AA, Pieh, C, Veal, CD, MacHado, RD, Backhouse, OC, Baumber, L, Constantinescu, CS, Brodsky, MC, Hunter, DG, Hertle, RW, Read, RJ, Edkins, S, O'Meara, S, Parker, A, Stevens, C, Teague, J, Wooster, R, Futreal, PA, Trembath, RC, Stratton, MR, Raymond, FL, Gottlob, I

المصدر: Scopus ; http://www.scopus.com/home.url

وصف الملف: metadata

Relation: NATURE GENETICS, 2011, 43 (7), pp. 720-720; http://hdl.handle.net/2381/24781

الاتاحة: http://hdl.handle.net/2381/24781
https://doi.org/10.1038/ng0711-720

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: Tarpey, P, Thomas, S, Sarvananthan, N, Mallya, U, Lisgo, S, Talbot, CJ, Roberts, EO, Awan, M, Surendran, M, McLean, RJ, Reinecke, RD, Langmann, A, Lindner, S, Koch, M, Jain, S, Woodruff, G, Gale, RP, Bastawrous, A, Degg, C, Droutsas, K, Asproudis, I, Zubcov, AA, Pieh, C, Veal, CD, Machado, RD, Backhouse, OC, Baumber, L, Constantinescu, CS, Brodsky, MC, Hunter, DG, Hertle, RW, Read, RJ, Edkins, S, O'Meara, S, Parker, A, Stevens, C, Teague, J, Wooster, R, Futreal, PA, Trembath, RC, Stratton, MR, Raymond, FL, Gottlob, I

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

مصطلحات موضوعية: Brain, Chromosome Mapping, Chromosomes, Human, Cytoskeletal Proteins, Eye Movements, Female, Gene Expression Regulation, Developmental, Genes, X-Linked, Genetic Linkage, Humans, Male, Membrane Proteins, Mutation, Nystagmus, Congenital, Pedigree, Retina

وصف الملف: metadata

Relation: NAT GENET, 2006, 38 (11), pp. 1242-1244; http://hdl.handle.net/2381/15523; ng1893

الاتاحة: http://hdl.handle.net/2381/15523
https://doi.org/10.1038/ng1893

المؤلفون: Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, MacHado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I

المصدر: Nature Genetics, 01-10-2006

Relation: https://eprints.ncl.ac.uk/72554

الاتاحة: https://eprints.ncl.ac.uk/72554

المؤلفون: Tarpey, P, Thomas, S, Sarvananthan, N, Mallya, U, Lisgo, S, Talbot, CJ, Roberts, EO, Awan, M, Surendran, M, McLean, RJ, Reinecke, RD, Langmann, A, Lindner, S, Koch, M, Woodruff, G, Gale, R, Degg, C, Droutsas, K, Asproudis, I, Zubcov, AA, Pieh, C, Veal, CD, Machado, RD, Backhouse, OC, Baumber, L, Jain, S, Constantinescu, CS, Brodsky, MC, Hunter, DG, Hertle, RW, Read, RJ, Edkins, S, O’Meara, S, Parker, A, Stevens, C, Teague, J, Wooster, R, Futreal, PA, Trembath, RC, Stratton, MR, Raymond, FL, Gottlob, I

مصطلحات موضوعية: Male, Chromosomes, Human, X, genetic structures, Eye Movements, Genetic Linkage, Brain, Chromosome Mapping, Gene Expression Regulation, Developmental, Membrane Proteins, eye diseases, Article, Retina, Pedigree, Cytoskeletal Proteins, Genes, X-Linked, Mutation, Humans, Female, Nystagmus, Congenital

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b3385dae51b2eba053bb011e8c2508cc
https://europepmc.org/articles/PMC2592600/

المؤلفون: Phillips, Paul H, Brodsky, MC

المصدر: 2001 North American Neuro-Ophthalmology Society Annual Meeting

مصطلحات موضوعية: Structural Neurohypophyseal Abnormalities, Hypopituitarism, Optic Nerve Hypoplasia

وصف الملف: application/pdf

Relation: Scientific Platform Presentations (Session I); Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu; 20010218_nanos_sciplatform1_06.pdf; 20010218_nanos_sciplatform1_06; https://collections.lib.utah.edu/ark:/87278/s6k67qnq

الاتاحة: https://collections.lib.utah.edu/ark:/87278/s6k67qnq

المؤلفون: Brodsky MC

المصدر: Archives of Ophthalmology; Sep2012, Vol. 130 Issue 9, p1199-1202, 4p

المؤلفون: Brodsky MC

المصدر: Archives of Ophthalmology; Aug2012, Vol. 130 Issue 8, p1055-1058, 4p

المؤلفون: Monte A. Del Monte, Berendina De Vries, Arnold London, Wai-Man Chan, Emin Cumhur Sener, Anat Loewenstein, Joseph L. Demer, Elizabeth C. Engle, Nakamichi Saito, Robert P. Cruse, Michael C. Brodsky, A. Nurten Akarsu, Roger H. Johnson, Mark S. Ruttum, Alina A. Zubcov, Alex V. Levin, Naomichi Matsumoto, Blaine L. Hart, Teresa de Berardinis, Lionel Kowal, Ravi Battu, Marlene C. Vogel, Michael O'Keefe, Thomas J. Carlow, Frank Hanisch, Banu T. Öztürk, Caroline Andrews, Robert D. Letson, Moshe Lazar, Eiichiro Uyama, Craig A. McKeown, James A. Katowitz, Scott M. Goldstein, Piergiorgio Franceschini, Richard M. Robb, Lisa Morris, Adriano Magli, Koki Yamada, Peter Roggenkäemper, Nicolas Krawiecki, Willem A. Houtman, John M. Shoffner, Anna Newlin, Elias I. Traboulsi, Irene Gottlob

المساهمون: Yamada, K, Andrews, C, Chan, Wm, Mckeown, Ca, Magli, A, DE BERARDINIS, Teresa, 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, Roggenkaemper, P, Gottlob, I, Kowal, L, Battu, R, Traboulsi, Ei, Franceschini, P, Newlin, A, Demer, Jl, Engle, E. C.

المصدر: Nature Genetics, 35(4), 318-321. Nature Publishing Group

مصطلحات موضوعية: Proband, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, genetic structures, Genetic Linkage, Molecular Sequence Data, Kinesins, Nerve Tissue Proteins, Biology, REGION, Motor protein, Mutational hotspot, Congenital fibrosis of the extraocular muscles, MAPS, Genetics, medicine, Missense mutation, Humans, Amino Acid Sequence, Strabismus, Child, Ophthalmoplegia, Sequence Homology, Amino Acid, CHROMOSOME-12, REFINEMENT, Oculomotor nerve, Genetic Variation, EXTERNAL OPHTHALMOPLEGIA, medicine.disease, Fibrosis, eye diseases, Pedigree, Phenotype, Oculomotor Muscles, Mutation, Kinesin, Female

وصف الملف: STAMPA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::503f38e3254efb202533148c92abe089
https://research.rug.nl/en/publications/7656e8c1-dbb1-45bb-82c1-1fab398a6a9c