المؤلفون: Fallows, R, McCoy, K, Hertza, J, Klosson, E, Estes, B, Stroescu, I, Salinas, CM, Stringer, A, Aronson, S, MacAllister, W, Spurgin, A, Morriss, M, Glasier, P, Stavinoha, P, Houshyarnejad, A, Jacobus, J, Norman, M, Peery, S, Mattingly, M, Pennuto, T, Anderson-Hanley, C, Miele, A, Dunnam, M, Edwards, M, O'Bryant, S, Johnson, L, Barber, R, Inscore, A, Kegel, J, Kozlovsky, A, Tarantino, B, Goldberg, A, Herrera-Pino, J, Jubiz-Bassi, N, Rashid, K, Noniyeva, Y, Vo, K, Stephens, V, Gomez, R, Sanders, C, Kovacs, M, Walton, B, Schmitter-Edgecombe, M, Parsey, C, Cook, D, Woods, S, Weinborn, M, Velnoweth, A, Rooney, A, Bucks, R, Adalio, C, White, S, Blair, J, Barber, B, Marcy, S, Boseck, J, McCormick, C, Davis, A, Berry, K, Koehn, E, Tiberi, N, Gelder, B, Brooks, B, Sherman, E, Garcia, MI, Robillard, R, Gunner, J, Lynch, J, McCaffrey, R, Hamilton, J, Froming, K, Nemeth, D, Steger, A, Lebby, P, Harrison, J, Mounoutoua, A, Preiss, J, Brimager, A, Gates, E, Chang, J, Cisneros, H, Long, J, Petrauskas, V, Casey, J, Picard, E, Rodriguez, M, Fonseca, F, Golden, C, Semrud-Clikeman, M, Goldenring Fine, J, Bledsoe, J, Thaler, N, Allen, D, Bello, D, Wood, N, Etcoff, L, Thede, L, Oraker, J, Gibson, F, Stanford, L, Gray, S, Vroman, L, Taylor, T, Seydel, K, Bure-Reyes, A, Stewart, J, Tourgeman, I, Demsky, Y, Burns, W, Burns, K, Calderon, C, Neblina, C, San Miguel Montes, L, Strutt, A, Scott, B, Armstrong, P, Booth, C, Blackstone, K, Moore, D, Gouaux, B, Ellis, R, Atkinson, J, Grant, I, The HNRP Group, Brennan, L, Schultheis, M, Hurtig, H, Weintraub, D, Duda, J, Moberg, P, Chute, D, Siderowf, A, Brescian, N, Gass, C, Brewster, R, King, T, Morris, R, Krawiecki, N, Dinishak, D, Richardson, G, Knight, M, Garcia, S, Strain, G, Devlin, M, Cohen, R, Paul, R, Crosby, R, Mitchell, J, Gunstad, J, Hancock, L, Bruce, J, Roberg, B, Lynch, S, Varnadore, E, Schiff, W, Kaufman, RS, Rinehardt, E, Schoenberg, M, Rosado, Y, Velamuri, S, LeBlanc, M, Pimental, P, Lynch-Chee, S, Broshek, D, Lyons, P, McKeever, J, Morse, C, Ang, J, Leist, T, Tracy, J, Morgan, E, Perry, W, Letendre, S, Musso, M, Jones, G, Hill, B, Proto, D, Barker, A, Gouvier, W, Nersesova, K, Drexler, M, Cherkasova, E, Sakamoto, M, Marcotte, T, Hilsabeck, R, Carlson, M, Barakat, F, Hassanein, T, Shevchik, K, McCaw, W, Schrock, B, Smith, M, Moser, D, Mills, J, Epping, E, Paulsen, J, Somogie, M, Bryan, F, Buscher, L, Tyrer, J, Stabler, A, Thelen, J, Lovelace, C, Graves, D, Greenberg, B, Harder, L, Szczebak, M, Glisky, M, Ukueberuwa, D, Arnett, P, Vahter, L, Ennok, M, Päll, K, Gross-Paju, K, Vargas, G, Medaglia, J, Chiaravalloti, N, Zakrzewski, C, Hillary, F, Andrews, A, Belloni, K, Nicewander, J, Miller, D, Johnson, S, David, Z, Weideman, E, Lawson, D, Currier, E, Morton, J, Robinson, J, Pella, R, Vertinski, M, Heisler, D, Park, B, Barney, S, Kucukboyaci, N, Girard, H, Kemmotsu, N, Cheng, C, Kuperman, J, McDonald, C, Carroll, C, Odland, A, Miller, L, Mittenberg, W, Coalson, D, Wahlstrom, D, Raiford, S, Holdnack, J, 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مصطلحات موضوعية: Abstracts

وصف الملف: text/html

Relation: http://acn.oxfordjournals.org/cgi/content/short/26/6/470; http://dx.doi.org/10.1093/arclin/acr056

الاتاحة: http://acn.oxfordjournals.org/cgi/content/short/26/6/470
https://doi.org/10.1093/arclin/acr056

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: A. L. Carter, Cohen M, F. A. Hommes, Krawiecki N, R. A. Roesel, Patricia L. Hartlage

المصدر: Journal of Intellectual Disability Research. 29:383-389

مصطلحات موضوعية: Male, Dipeptidases, medicine.medical_specialty, Hearing loss, Carnosine, Physiology, Urine, chemistry.chemical_compound, Arts and Humanities (miscellaneous), Intellectual Disability, medicine, Carnosinemia, Humans, Dementia, Neurofibromatosis, Child, Psychiatry, Serum carnosinase deficiency, business.industry, Rehabilitation, Dipeptides, medicine.disease, Phenotype, Kinetics, Psychiatry and Mental health, Neurology, chemistry, Child, Preschool, Mutation, Female, Neurology (clinical), medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8942e87e3344e010a762999a566d3b55
https://doi.org/10.1111/j.1365-2788.1985.tb00364.x

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: MUSUMECI, Olimpia, Naini A, Slonim AE, Skavin N, Hadjigeorgiou GL, Krawiecki N, Weissman BM, Tsao CY, Mendell JR, Shanske S, De Vivo DC, Hirano M, DiMauro S.

المساهمون: Musumeci, Olimpia, Naini, A, Slonim, Ae, Skavin, N, Hadjigeorgiou, Gl, Krawiecki, N, Weissman, Bm, Tsao, Cy, Mendell, Jr, Shanske, S, De Vivo, Dc, Hirano, M, Dimauro, S.

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000167961500006; volume:56; issue:7; firstpage:849; lastpage:855; numberofpages:7; journal:NEUROLOGY; http://hdl.handle.net/11570/2431313; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0035836740

الاتاحة: http://hdl.handle.net/11570/2431313

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: Wallace, D.C., Lott, M.T., Trounce, I., Brown, M.D., Huoponen, K., Krawiecki, N., Shoffner, J.M.

المصدر: Progress in Cell Research ; Thirty Years of Progress in Mitochondrial Bioenergetics and Molecular Biology ; page 249-252 ; ISSN 0924-8315

الاتاحة: http://dx.doi.org/10.1016/b978-0-444-82235-2.50046-1

المؤلفون: Musumeci, O., Naini, A., Slonim, A. E., Skavin, N., Hadjigeorgiou, G. L., Krawiecki, N., Weissman, B. M., Tsao, C.-Y., Mendell, J. R., Shanske, S., De Vivo, D. C., Hirano, M., DiMauro, S.

المصدر: Neurology ; volume 56, issue 7, page 849-855 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.56.7.849
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.56.7.849

المؤلفون: Cohen, M., Krawiecki, N., DuRant, R. H.

المصدر: Archives of Clinical Neuropsychology ; volume 2, issue 2, page 163-173 ; ISSN 0887-6177 1873-5843

الاتاحة: https://doi.org/10.1093/arclin/2.2.163
http://academic.oup.com/acn/article-pdf/2/2/163/6929644/2-2-163.pdf

المؤلفون: Shoffner, J. M., Fernhoff, P. M., Krawiecki, N. S., Caplan, D. B., Holt, P. J., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., Ballinger, S. W., Lott, M. T., Wallace, D. C.

المصدر: Neurology ; volume 42, issue 11, page 2168-2168 ; ISSN 0028-3878 1526-632X

الاتاحة: http://dx.doi.org/10.1212/wnl.42.11.2168
https://www.neurology.org/doi/pdfdirect/10.1212/WNL.42.11.2168

المؤلفون: Kullgren KA, Morris RD, Morris MK, Krawiecki N

المصدر: Journal of Psychosocial Oncology; 2003, Vol. 21 Issue 1, p73-87, 15p

المؤلفون: Cohen, M., Hartlage, P. L., Krawiecki, N., Roesel, R. A., Carter, A. L., Hommes, F. A.

المصدر: Journal of Mental Deficiency Research; Dec1985, Vol. 29 Issue 4, p383-389, 7p

مصطلحات موضوعية: SERUM, HEALTH, ATTENTION-deficit hyperactivity disorder, NEUROFIBROMA, DIAGNOSIS, NEUROFIBROMATOSIS

المؤلفون: Ghim, Thad T., Davis, Patricia, Seo, Jong-Jin, Crocker, Ian, O'Brien, Mark, Krawiecki, Nicolas, Ghim, T T, Davis, P, Seo, J J, Crocker, I, O'Brien, M, Krawiecki, N

المصدر: Cancer (0008543X); Sep1993, Vol. 72 Issue 5, p1795-1800, 6p

المؤلفون: Ghim, Thad T., Seo, Jong-Jin, O'Brien, Mark, Meacham, Lillian, Crocker, Ian, Krawiecki, Nicolas, Ghim, T T, Seo, J J, O'Brien, M, Meacham, L, Crocker, I, Krawiecki, N

المصدر: Cancer (0008543X); Jun1993, Vol. 71 Issue 12, p4091-4095, 5p

المؤلفون: Carlson-Green, B, Morris, R D, Krawiecki, N

المصدر: Journal of Pediatric Psychology; 12/ 1/1995, p769-784, 16p

المؤلفون: Shoffner, J. M., Fernhoff, P. M., Krawiecki, N. S., Caplan, D. B., Holt, P. J., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., Ballinger, S. W., Lott, M. T., Wallace, D. C.

المصدر: Neurology; Nov1992, Vol. 42 Issue 11, p2168-2174, 7p

المؤلفون: Zheng, X., Shoffner, J. M., Lott, M. T., Voljavec, A. S., Krawiecki, N. S., Winn, K., Wallace, B. C., Wallace, D C

المصدر: Neurology; Sep1989, Vol. 39 Issue 9, p1203-1209, 7p

المؤلفون: Krawiecki, Nicolas S., Dyken, Paul R., El Gammal, Taher, Durant, Robert H., Swift, Andrea, Krawiecki, N S, Dyken, P R, El Gammal, T, DuRant, R H, Swift, A

المصدر: Annals of Neurology; 1984, Vol. 15 Issue 5, p489-493, 5p

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: North, K., Korson, M.S., Krawiecki, N., Shoffner, J.M., Holm, I.A.

المصدر: The Journal of Pediatrics; May 1996, Vol. 128 Issue: 5 p688-692, 5p