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: RUTTUM, M

المصدر: Practical Strategies in Pediatric Diagnosis and Therapy ; page 765-797 ; ISBN 9780721691312

الاتاحة: http://dx.doi.org/10.1016/b978-0-7216-9131-2.50047-6

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: 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: 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 A, DIVISION OF GENETICS, CHILDRENS HOSPITAL, BOSTON, MA, U.S.A., DE BERARDINIS, TERESA

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, A, DE BERARDINIS, Teresa, DIVISION OF, Genetic, Childrens, Hospital, Boston, Ma, U. S., A.

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000179845700001; volume:: BMC Genet. 2002;3(1):3. Epub; issue:3; firstpage:1; lastpage:8; numberofpages:8; journal:BMC GENETICS; http://hdl.handle.net/11588/137953; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-18744378900

الاتاحة: http://hdl.handle.net/11588/137953

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: Ruttum, M., Parikh, S.P.

المصدر: 2010 42nd Southeastern Symposium on System Theory (SSST); 2009, p227-231, 5p

المؤلفون: Zirbel, G. M., Ruttum, M. S., Post, A. C., N. B. Esterly

المصدر: British Journal of Dermatology; Nov1995, Vol. 133 Issue 5, p797-800, 4p

مصطلحات موضوعية: ECTODERMAL dysplasia, SKIN diseases, INFLAMMATION, DIAGNOSIS, PEDIATRIC dermatology

المؤلفون: Hartmann, E. E., Dobson, V., Hainline, L., Marsh-Tootle, W., Quinn, G. E., Ruttum, M. S., Schmidt, P. P., Simons, K.

المصدر: Ophthalmology; March 2001, Vol. 108 Issue: 3 p479-486, 8p

المؤلفون: Kivlin, J. D., Simons, K. B., Lazoritz, S., Ruttum, M. S.

المصدر: Ophthalmology; 2000, Vol. 107 Issue: 7 p1246-1254, 9p

المؤلفون: ENGLE E.C., MCINTOSH N., LEE B.A., JHONSON R, O'KEEFE M., LETSON R., KRAWIECKI N., SHOFFNER J, RUTTUM M, SABOL LJ, DE BERARDINIS, TERESA, MAGLI, ADRIANO

المساهمون: Engle, E. C., Mcintosh, N., Lee, B. A., Jhonson, R, O'Keefe, M., Letson, R., Krawiecki, N., Shoffner, J, Ruttum, M, Sabol, Lj, Magli, Adriano, DE BERARDINIS, Teresa

Relation: http://hdl.handle.net/11588/196112

الاتاحة: http://hdl.handle.net/11588/196112

المؤلفون: Daufenbach, D. R., Ruttum, M. S., Pulido, J. S., Keech, R. V.

المصدر: Ophthalmology; 1998, Vol. 105 Issue: 8 p1455-1458, 4p

المؤلفون: Ruttum, M., Noorden, G. K.

المصدر: Documenta Ophthalmologica; August 1984, Vol. 58 Issue: 1 p131-139, 9p

المؤلفون: Suh, D. W., Ruttum, M. S., Stuckenschneider, B. J., Mieler, W. F., Kivlin, J. D.

المصدر: Ophthalmology; 1999, Vol. 106 Issue: 8 p1564-1570, 7p

المؤلفون: Ruttum, M.

المصدر: Archives of Ophthalmology ; volume 102, issue 6, page 824-824 ; ISSN 0003-9950

الاتاحة: http://dx.doi.org/10.1001/archopht.1984.01040030650005
https://archopht.jamanetwork.com/ama/content_public/journal/ophth/17949/archopht_102_6_005.pdf

المؤلفون: Deborah Alcorn, Susan M Bence, Ruttum M

المصدر: Journal of pediatric ophthalmology and strabismus. 23(6)

مصطلحات موضوعية: Visual acuity, genetic structures, Vision Disorders, Visual Acuity, Screening programs, Medicine, Humans, Mass Screening, Vision test, Referral and Consultation, Screening study, Mass screening, Depth Perception, business.industry, Vision Tests, General Medicine, eye diseases, Ophthalmology, Stereopsis, Child, Preschool, Pediatrics, Perinatology and Child Health, Optometry, medicine.symptom, business, Depth perception, Binocular vision

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9f13778fc4fa773365117061e7e0bac
https://pubmed.ncbi.nlm.nih.gov/3454373

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