المؤلفون: Chung, S.-K., Bode, A., Cushion, T. D., Thomas, R. H., Hunt, C., Wood, S.-E., Pickrell, W. O., Drew, C. J. G., Yamashita, S., Shiang, R., Leiz, S., Longardt, A.-C., Raile, V., Weschke, B., Puri, R. D., Verma, I. C., Harvey, R. J., Ratnasinghe, D. D., Parker, M., Rittey, C., Masri, A., Lingappa, L., Howell, O. W., Vanbellinghen, J.-F., Mullins, J. G., Lynch, J. W., Rees, M. I.

المصدر: Human Molecular Genetics ; volume 22, issue 12, page 2552-2552 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/ddt147
http://academic.oup.com/hmg/article-pdf/22/12/2552/1758492/ddt147.pdf

المؤلفون: Pendleton, A, Wright, GD, Doherty, MD, Shiang, R, Hughes, A

المصدر: Speaker abstracts 2001 ; page A190.3-A191

الاتاحة: http://dx.doi.org/10.1136/annrheumdis-2001.480
https://syndication.highwire.org/content/doi/10.1136/annrheumdis-2001.480

المؤلفون: Pendleton, A, Wright, GD, Doherty, MD, Shiang, R, Hughes, AE

المصدر: Speaker abstracts 2001 ; page A115.2-A115

الاتاحة: http://dx.doi.org/10.1136/annrheumdis-2001.288
https://syndication.highwire.org/content/doi/10.1136/annrheumdis-2001.288

المؤلفون: Chung, S K, Vanbellinghen, J F, Mullins, J G L, Robinson, A, Hantke, J, Hammond, C L, Gilbert, D F, Freilinger, M, Ryan, M, Kruer, M C, Masri, A, Gurses, C, Ferrie, C, Harvey, K, Shiang, R, Christodoulou, J, Andermann, F, Andermann, E, Thomas, R H, Harvey, Robert J, Lynch, J W, Rees, M I

مصطلحات موضوعية: FoR 11 (Medical and Health Sciences), FoR 17 (Psychology and Cognitive Sciences)

Relation: usc:23595; URN:ISSN: 0270-6474

الاتاحة: https://doi.org/10.1523/JNEUROSCI.1763-10.2010

المؤلفون: Chung, SK, Vanbellinghen, JF, Mullins, JGL, Robinson, A, Hantke, J, Hammond, CL, Gilbert, DF, Freilinger, M, Ryan, M, Kruer, MC, Masri, A, Gurses, C, Ferrie, C, Harvey, K, Shiang, R, Christodoulou, J, Andermann, F, Andermann, E, Thomas, RH, Harvey, RJ, Lynch, JW, Rees, MI

المصدر: J NEUROSCI , 30 (28) 9612 - 9620. (2010)

مصطلحات موضوعية: INHIBITORY GLYCINE RECEPTOR, BETA-SUBUNIT, COMPOUND HETEROZYGOSITY, ACETYLCHOLINE-RECEPTOR, TRANSMEMBRANE DOMAIN, CHLORIDE CHANNELS, MASS-SPECTROMETRY, STARTLE DISEASE, ALPHA-1 SUBUNIT, BINDING

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1350607/1/pathophysiological._jon.pdf; https://discovery.ucl.ac.uk/id/eprint/1350607/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1350607/1/pathophysiological._jon.pdf
https://discovery.ucl.ac.uk/id/eprint/1350607/

المؤلفون: Rees, MI, Harvey, K, Pearce, BR, Chung, S-K, Duguid, IC, Thomas, P, Beatty, S, Graham, GE, Armstrong, L, Shiang, R, Abbott, KJ, Zuberi, SM, Stephenson, JBP, Owen, MJ, Tijssen, MAJ, van den Maagdenberg, AMJM, Smart, TG, Supplisson, S, Harvey, RJ

المصدر: Nature Genetics , 38 (7) pp. 801-806. (2006)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1350600/4/Duguid_ukmss-27750.pdf; https://discovery.ucl.ac.uk/id/eprint/1350600/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1350600/4/Duguid_ukmss-27750.pdf
https://discovery.ucl.ac.uk/id/eprint/1350600/

المؤلفون: Reichenberger, E., Tiziani, Valdenize UNIFESP, Watanabe, S., Park, L., Ueki, Y., Santanna, C., Baur, S. T., Shiang, R., Grange, D. K., Beighton, P., Gardner, J., Hamersma, H., Sellars, S., Ramesar, R., Lidral, A. C., Sommer, A., Amaral, Cássio Menezes Raposo do, Gorlin, R. J., Mulliken, J. B., Olsen, B. R.

المساهمون: Harvard Sch Dent Med, Harvard Univ, Universidade Federal de São Paulo (UNIFESP), Inst Cirurg Plast Craniofacial SOBRAPAR, Showa Univ, Virginia Commonwealth Univ, St Louis Univ, Univ Cape Town, Ohio State Univ, Childrens Hosp, Univ Minnesota

وصف الملف: 1321-1326; application/pdf

Relation: American Journal of Human Genetics; http://dx.doi.org/10.1086/320612; American Journal of Human Genetics. Chicago: Univ Chicago Press, v. 68, n. 6, p. 1321-1326, 2001.; http://repositorio.unifesp.br/handle/11600/26561; WOS000169094600002.pdf; WOS:000169094600002

الاتاحة: http://repositorio.unifesp.br/handle/11600/26561
https://doi.org/10.1086/320612

المؤلفون: Murray, JC, Buetow, KH, Smith, M, Carlock, L, Chakravarti, A, Ferrell, RF, Gedamu, L, Gilliam, C, Shiang, R, DeHaven, CR

المصدر: American Journal of Human Genetics. 42(3)

مصطلحات موضوعية: Biological Sciences, Genetics, Chromosome Mapping, Chromosomes, Human, Pair 4, Genetic Linkage, Genetic Markers, Humans, Polymorphism, Restriction Fragment Length, interleukin 2, radioisotope, chromosome 4, female, gene order, genetic engineering, genetic linkage, genetic recombination, heredity, human, human cell, male, normal human, normal value, priority journal, restriction fragment length polymorphism, sex difference, Human, Linkage, Support, Non-U.S. Gov't, Support, U.S. Gov't, P.H.S., Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/57g5g3jz
https://escholarship.org/content/qt57g5g3jz/qt57g5g3jz.pdf

المؤلفون: Murray, JC, Shiang, R, Carlock, LR, Smith, M, Buetow, KH

المصدر: Human genetics. 76(3)

مصطلحات موضوعية: Hybrid Cells, Chromosomes, Human, Pair 4, Animals, Humans, Alcohol Dehydrogenase, Albumins, DNA, Genetic Markers, Gene Frequency, Polymorphism, Genetic, Polymorphism, Restriction Fragment Length, Alleles, Cricetinae, Genetic Linkage, Chromosomes, Human, Pair 4, Polymorphism, Genetic, Restriction Fragment Length, albumin, alcohol dehydrogenase, radioisotope, blood and hemopoietic system, genetic engineering, genetic polymorphism, heredity, human, human cell, in vitro study, methodology, restriction fragment length polymorphism, technique, gene locus, priority journal, screening, Linkage, Genetics, Complementary and Alternative Medicine, Paediatrics and Reproductive Medicine, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/6191p80v

المؤلفون: Winokur, S. T., Shiang, R.

المصدر: Human Molecular Genetics ; volume 7, issue 12, page 1947-1952 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/7.12.1947
http://academic.oup.com/hmg/article-pdf/7/12/1947/1560248/7-12-1947.pdf

المؤلفون: Dixon, J., Hovanes, K., Shiang, R., Dixon, M. J.

المصدر: Human Molecular Genetics ; volume 6, issue 5, page 727-737 ; ISSN 0964-6906 1460-2083

الاتاحة: http://dx.doi.org/10.1093/hmg/6.5.727

المؤلفون: Tavormina, P. L., Rimoin, D. L., Cohn, D. H., Zhu, Y.-Z., Shiang, R., Wasmuth, J. J.

المصدر: Human Molecular Genetics ; volume 4, issue 11, page 2175-2177 ; ISSN 0964-6906 1460-2083

الاتاحة: https://doi.org/10.1093/hmg/4.11.2175
http://academic.oup.com/hmg/article-pdf/4/11/2175/1851797/4-11-2175.pdf

المؤلفون: Carta, E., Chung, S.-K., James, V. M., Robinson, A., Gill, J. L., Remy, N., Vanbellinghen, J.-F., Drew, C. J. G., Cagdas, S., Cameron, D., Cowan, F. M., Del Toro, M., Graham, G. E., Manzur, A. Y., Masri, A., Rivera, S., Scalais, E., Shiang, R., Sinclair, K., Stuart, C. A., Tijssen, M. A. J., Wise, G., Zuberi, S. M., Harvey, K., Pearce, B. R., Topf, M., Thomas, Rhys Huw, Supplisson, S., Rees, M. I., Harvey, R. J.

مصطلحات موضوعية: R Medicine (General), RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry

Relation: Carta, E., Chung, S.-K., James, V. M., Robinson, A., Gill, J. L., Remy, N., Vanbellinghen, J.-F., Drew, C. J. G., Cagdas, S., Cameron, D., Cowan, F. M., Del Toro, M., Graham, G. E., Manzur, A. Y., Masri, A., Rivera, S., Scalais, E., Shiang, R., Sinclair, K., Stuart, C. A., Tijssen, M. A. J., Wise, G., Zuberi, S. M., Harvey, K., Pearce, B. R., Topf, M., Thomas, Rhys Huw https://orca.cardiff.ac.uk/view/cardiffauthors/A124167S.html orcid:0000-0003-2062-8623 orcid:0000-0003-2062-8623, Supplisson, S., Rees, M. I. and Harvey, R. J. 2012. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. Journal of Biological Chemistry 287 (34) , pp. 28975-28985. 10.1074/jbc.M112.372094 https://doi.org/10.1074/jbc.M112.372094

الاتاحة: https://orca.cardiff.ac.uk/id/eprint/88712/
https://doi.org/10.1074/jbc.M112.372094

المؤلفون: Wolff, R., Nakamura, Y., Odelberg, S., Shiang, R., White, R.

المصدر: Experientia Supplementum ; DNA Fingerprinting: Approaches and Applications ; page 20-38 ; ISSN 1023-294X ; ISBN 9783034873147 9783034873123

الاتاحة: http://dx.doi.org/10.1007/978-3-0348-7312-3_2
http://link.springer.com/content/pdf/10.1007/978-3-0348-7312-3_2.pdf

المؤلفون: Theilmann, J, Kanani, S, Shiang, R, Robbins, C, Quarrell, O, Huggins, M, Hedrick, A, Weber, B, Collins, C, Wasmuth, J J

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/26/11/676; http://dx.doi.org/10.1136/jmg.26.11.676

الاتاحة: http://jmg.bmj.com/cgi/content/short/26/11/676
https://doi.org/10.1136/jmg.26.11.676

المؤلفون: Shiang, R., Murray, J.C., Wiggs, J., Dryja, T.

المصدر: Nucleic Acids Research ; volume 16, issue 18, page 9069-9069 ; ISSN 0305-1048 1362-4962

الاتاحة: https://doi.org/10.1093/nar/16.18.9069
http://academic.oup.com/nar/article-pdf/16/18/9069/7046798/16-18-9069.pdf

المؤلفون: Vergouwe, MN, Tijssen, MAJ, Shiang, R, vanDijk, JG, AlShahwan, S, Ophoff, RA, Frants, RR

المصدر: Vergouwe , MN , Tijssen , MAJ , Shiang , R , vanDijk , JG , AlShahwan , S , Ophoff , RA & Frants , RR 1997 , ' Hyperekplexia-like syndromes without mutations in the GLRA1 gene ' , Clinical neurology and neurosurgery , vol. 99 , no. 3 , pp. 172-178 .

مصطلحات موضوعية: hyperekplexia-like syndromes, mutation analysis of the GLRA1 gene, haplotype analysis, INHIBITORY GLYCINE-RECEPTOR, GAMMA-AMINOBUTYRIC-ACID, STARTLE-DISEASE, HEREDITARY HYPEREKPLEXIA, FUNCTIONAL EXPRESSION, BETA-SUBUNIT, MOUSE, DISORDER, HYPEREXPLEXIA, DNA

Relation: https://research.rug.nl/en/publications/cde821be-295a-426c-b9eb-bbe8aba695e9

الاتاحة: https://hdl.handle.net/11370/cde821be-295a-426c-b9eb-bbe8aba695e9
https://research.rug.nl/en/publications/cde821be-295a-426c-b9eb-bbe8aba695e9

المؤلفون: Vergouwe, M.N., Tijssen, M.A.J., Shiang, R., van Dijk, J.G., Shahwan, Saad Al, Ophoff, R.A., Frants, R.R.

المصدر: Clinical Neurology and Neurosurgery ; volume 99, issue 3, page 172-178 ; ISSN 0303-8467

الاتاحة: http://dx.doi.org/10.1016/s0303-8467(97)00022-x
https://api.elsevier.com/content/article/PII:S030384679700022X?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S030384679700022X?httpAccept=text/plain

المؤلفون: Tijssen, M.A.J., Shiang, R., Deutekom, J.C.T. van, Boerman, R.H., Wasmuth, J.J., Sandkuijl, L.A., Frants, R.R., Padberg, G.W.A.M.

المصدر: Archives of Neurology, 52, 6, pp. 578-582

وصف الملف: application/pdf

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/20657/20657___.PDF; http://hdl.handle.net/2066/20657

الاتاحة: http://hdl.handle.net/2066/20657
https://repository.ubn.ru.nl//bitstream/handle/2066/20657/20657___.PDF

المؤلفون: de Koning-Tijssen, Marina, SHIANG, R, VANDEUTEKOM, J, BOERMAN, RH, WASMUTH, JJ, SANDKUIJL, LA, FRANTS, RR, PADBERG, GW

المصدر: de Koning-Tijssen , M , SHIANG , R , VANDEUTEKOM , J , BOERMAN , RH , WASMUTH , JJ , SANDKUIJL , LA , FRANTS , RR & PADBERG , GW 1995 , ' Molecular Genetic Reevaluation of the Dutch Hyperekplexia Family ' , Archives of Neurology , vol. 52 , no. 6 , pp. 578-582 . https://doi.org/10.1001/archneur.1995.00540300052012

مصطلحات موضوعية: STARTLE DISEASE, DNA POLYMORPHISMS, LINKAGE ANALYSIS, HYPEREXPLEXIA, CHROMOSOME-5, DISORDER

Relation: https://research.rug.nl/en/publications/5085d024-ab85-470c-b8fc-f768ccbfe9e8

الاتاحة: https://hdl.handle.net/11370/5085d024-ab85-470c-b8fc-f768ccbfe9e8
https://research.rug.nl/en/publications/5085d024-ab85-470c-b8fc-f768ccbfe9e8
https://doi.org/10.1001/archneur.1995.00540300052012