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1Academic Journal
المؤلفون: Collin, GB, Shi, L, Yu, M, Akturk, N, Charette, JR, Hyde, LF, Weatherly, SM, Pera, MF, Naggert, JK, Peachey, NS, Nishina, PM, Krebs, MP
Relation: pii: ijms23042220; Collin, G. B., Shi, L., Yu, M., Akturk, N., Charette, J. R., Hyde, L. F., Weatherly, S. M., Pera, M. F., Naggert, J. K., Peachey, N. S., Nishina, P. M. & Krebs, M. P. (2022). A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction. Int J Mol Sci, 23 (4), pp.2220-. https://doi.org/10.3390/ijms23042220.; http://hdl.handle.net/11343/301885
الاتاحة: http://hdl.handle.net/11343/301885
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2Academic Journal
المؤلفون: Dhingra, A, Bell, BA, Peachey, NS, Daniele, LL, Reyes-Reveles, J, Sharp, RC, Jun, B, Bazan, NG, Sparrow, JR, Kim, HJ, Philp, NJ, Boesze-Battaglia, K
المصدر: Frontiers in cellular neuroscience. 12:351
مصطلحات موضوعية: Medicin och hälsovetenskap
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3Academic Journal
المؤلفون: Waksmunski, AR, Grunin, M, Kinzy, TG, Igo, RP, Haines, JL, Bailey, JNC, Fritsche, LG, Igl, W, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GHS, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, M, Vote, BJ, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Ouyang, H, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Stark, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-A, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, S, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CCW, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, A, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Iyengar, SK, Weber, BHF, Abecasis, GR, Heid, IM
Relation: pii: 2752226; Waksmunski, A. R., Grunin, M., Kinzy, T. G., Igo, R. P., Haines, J. L., Bailey, J. N. C., Fritsche, L. G., Igl, W., Grassmann, F., Sengupta, S., Bragg-Gresham, J. L., Burdon, K. P., Hebbring, S. J., Wen, C., Gorski, M., Kim, I. K., Cho, D., Zack, D., Souied, E. ,. Heid, I. M. (2019). Pathway Analysis Integrating Genome-Wide and Functional Data Identifies PLCG2 as a Candidate Gene for Age-Related Macular Degeneration. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 60 (12), pp.4041-4051. https://doi.org/10.1167/iovs.19-27827.; http://hdl.handle.net/11343/245045
الاتاحة: http://hdl.handle.net/11343/245045
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4Academic Journal
المؤلفون: Sivakumaran, TA, Igo, RP, Kidd, JM, Itsara, A, Kopplin, LJ, Chen, W, Hagstrom, SA, Peachey, NS, Francis, PJ, Klein, ML, Chew, EY, Ramprasad, VL, Tay, W-T, Mitchell, P, Seielstad, M, Stambolian, DE, Edwards, AO, Lee, KE, Leontiev, DV, Jun, G, Wang, Y, Tian, L, Qiu, F, Henning, AK, LaFramboise, T, Sen, P, Aarthi, M, George, R, Raman, R, Das, MK, Vijaya, L, Kumaramanickavel, G, Wong, TY, Swaroop, A, Abecasis, GR, Klein, R, Klein, BEK, Nickerson, DA, Eichler, EE, Iyengar, SK
Relation: pii: PONE-D-18-35792; Sivakumaran, T. A., Igo, R. P., Kidd, J. M., Itsara, A., Kopplin, L. J., Chen, W., Hagstrom, S. A., Peachey, N. S., Francis, P. J., Klein, M. L., Chew, E. Y., Ramprasad, V. L., Tay, W. -T., Mitchell, P., Seielstad, M., Stambolian, D. E., Edwards, A. O., Lee, K. E., Leontiev, D. V. ,. Iyengar, S. K. (2018). A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration (vol 6, e25598, 2011). PLOS ONE, 13 (12), https://doi.org/10.1371/journal.pone.0209943.; http://hdl.handle.net/11343/306219
الاتاحة: http://hdl.handle.net/11343/306219
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5Conference
المؤلفون: Strauß, O, Rosenthal, R, Wadelius, C, Bakall, B, Gallemore, RP, Peachey, NS, Marmorstein, AD
المصدر: Evidenzbasierte Medizin - Anspruch und Wirklichkeit; 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft; 20040923-20040926; Berlin; DOC04dogSO.05.15 /20040922/
مصطلحات موضوعية: ddc: 610
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6Academic Journal
المؤلفون: Sivakumaran, TA, Igo, RP, Kidd, JM, Itsara, A, Kopplin, LJ, Chen, W, Hagstrom, SA, Peachey, NS, Francis, PJ, Klein, ML, Chew, EY, Ramprasad, VL, Tay, W-T, Mitchell, P, Seielstad, M, Stambolian, DE, Edwards, AO, Lee, KE, Leontiev, DV, Jun, G, Wang, Y, Tian, L, Qiu, F, Henning, AK, LaFramboise, T, Sen, P, Aarthi, M, George, R, Raman, R, Das, MK, Vijaya, L, Kumaramanickavel, G, Wong, TY, Swaroop, A, Abecasis, GR, Klein, R, Klein, BEK, Nickerson, DA, Eichler, EE, Iyengar, SK
المساهمون: Urtti, A
Relation: pii: PONE-D-11-09164; Sivakumaran, T. A., Igo, R. P., Kidd, J. M., Itsara, A., Kopplin, L. J., Chen, W., Hagstrom, S. A., Peachey, N. S., Francis, P. J., Klein, M. L., Chew, E. Y., Ramprasad, V. L., Tay, W. -T., Mitchell, P., Seielstad, M., Stambolian, D. E., Edwards, A. O., Lee, K. E., Leontiev, D. V. ,. Iyengar, S. K. (2011). A 32 kb Critical Region Excluding Y402H in CFH Mediates Risk for Age-Related Macular Degeneration. PLOS ONE, 6 (10), https://doi.org/10.1371/journal.pone.0025598.; http://hdl.handle.net/11343/264334
الاتاحة: http://hdl.handle.net/11343/264334
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7Academic Journal
المؤلفون: Fritsche, LG, Igl, W, Bailey, JNC, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Burdon, KP, Hebbring, S J, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, R J, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, J D, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, YD, Stanton, CM, Buitendijk, Gabriëlle, Zhan, XW, Kwong, A M, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, J R, Heckenlively, JR, Othman, MI, Vote, B J, Liang, H H, Souzeau, E, McAllister, I L, Isaacs, T, Hall, J, Lake, S, Mackey, DA, Constable, I J, Craig, JE, Kitchner, T E, Yang, Z L, Su, Z G, Luo, HR, Chen, D, Hong, O Y, Flagg, K, Lin, DW, Mao, G P, Ferreyra, H, Starke, K, von Strachwitz, C N, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, M A, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, MY, Curcio, C A, Mohand-Said, S, Sahel, J M, Audo, I, Benchaboune, M, Cree, AJ, Rennie, C A, Goverdhan, S V, Grunin, M, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, F G, Blond, F, Blanche, H, Deleuze, JF, Igo, RP, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, E L, Klein, R, Hauser, MA, Postel, E A, Courtenay, M D, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley, MA, Agarwal, Arnav, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB (Carel), Cain, MS, Richardson, AJ, Martin, T M, Blangero, J, Weeks, DE, Dhillon, B, Duijn, Cornelia, Doheny, KF, Romm, J, Klaver, Caroline, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, Hollander, AI, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, Kai, Brilliant, M H, Hewitt, AW, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Haines, JL, Iyengar, SK, Weber, BHF, Abecasis, GR, Heid, IM
المصدر: Fritsche , LG , Igl , W , Bailey , JNC , Grassmann , F , Sengupta , S , Bragg-Gresham , JL , Burdon , KP , Hebbring , S J , Wen , C , Gorski , M , Kim , IK , Cho , D , Zack , D , Souied , E , Scholl , HPN , Bala , E , Lee , KE , Hunter , DJ , Sardell , R J , Mitchell , P , Merriam , JE , Cipriani , V , Hoffman , J D , Schick , T , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016401, name=EMC NIHES-01-64-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR016001, name=EMC OR-01-60-01
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8Academic Journal
المؤلفون: Fritsche, LG, Igl, W, Bailey, JN, Grassmann, F, Sengupta, S, Bragg-Gresham, JL, Kathryn Burdon, Hebbring, SJ, Wen, C, Gorski, M, Kim, IK, Cho, D, Zack, D, Souied, E, Scholl, HPN, Bala, E, Lee, KE, Hunter, DJ, Sardell, RJ, Mitchell, P, Merriam, JE, Cipriani, V, Hoffman, JD, Schick, T, Lechanteur, YTE, Guymer, RH, Johnson, MP, Jiang, Y, Stanton, CM, Buitendijk, GH, Zhan, X, Kwong, AM, Boleda, A, Brooks, M, Gieser, L, Ratnapriya, R, Branham, KE, Foerster, JR, Heckenlively, JR, Othman, MI, Brendan Vote, Liang, HH, Souzeau, E, McAllister, IL, Isaacs, T, Hall, J, Lake, S, David Mackey, Constable, IJ, Craig, JE, Kitchner, TE, Yang, Z, Su, Z, Luo, H, Chen, D, Ouyang, H, Flagg, K, Lin, D, Mao, G, Ferreyra, H, Stark, K, von Strachwitz, CN, Wolf, A, Brandl, C, Rudolph, G, Olden, M, Morrison, MA, Morgan, DJ, Schu, M, Ahn, J, Silvestri, G, Tsironi, EE, Park, KH, Farrer, LA, Orlin, A, Brucker, A, Li, M, Curcio, CA, Mohand-Said, S, Sahel, J-A, Audo, I, Benchaboune, M, Cree, AJ, Rennie, CA, Goverdhan, SV, Grunin, M, Hagbi-Levi, S, Campochiaro, P, Katsanis, N, Holz, FG, Blond, F, Blanche, H, Deleuze, J-F, Igo Jr, RP, Truitt, B, Peachey, NS, Meuer, SM, Myers, CE, Moore, EL, Klein, R, Hauser, MA, Postel, EA, Courtenay, MD, Schwartz, SG, Kovach, JL, Scott, WK, Liew, G, Tan, AG, Gopinath, B, Merriam, JC, Smith, RT, Khan, JC, Shahid, H, Moore, AT, McGrath, JA, Laux, R, Brantley Jr, MA, Agarwal, A, Ersoy, L, Caramoy, A, Langmann, T, Saksens, NTM, de Jong, EK, Hoyng, CB, Cain, MS, Richardson, AJ, Martin, TM, Blangero, J, Weeks, DE, Dhillon, B, van Duijn, CM, Doheny, KF, Romm, J, Klaver, CC, Hayward, C, Gorin, MB, Klein, ML, Baird, PN, den Hollander, AI, Fauser, S, Yates, JRW, Allikmets, R, Wang, JJ, Schaumberg, DA, Klein, BEK, Hagstrom, SA, Chowers, I, Lotery, AJ, Leveillard, T, Zhang, K, Brilliant, MH, Alexander Hewitt, Swaroop, A, Chew, EY, Pericak-Vance, MA, DeAngelis, M, Stambolian, D, Haines, JL, Iyengar, SK, Weber, BH, Abecasis, GR, Heid, IM
مصطلحات موضوعية: Ophthalmology, genome-wide association studies, genomics, neurodegenerative diseases
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9Academic Journal
المؤلفون: Fritsche, LG, Chen, W, Schu, M, Yaspan, BL, Yu, YG, Thorleifsson, G, Zack, DJ, Arakawa, S, Cipriani, V, Ripke, S, Igo, RP, Buitendijk, Gabriëlle, Sim, XL, Weeks, DE, Guymer, RH, Merriam, JE, Francis, PJ, Hannum, G, Agarwal, Arnav, Armbrecht, AM, Audo, I, Aung, T, Barile, GR, Benchaboune, M, Bird, AC, Bishop, PN, Branham, KE, Brooks, M, Brucker, AJ, Cade, WH, Cain, MS, Campochiaroll, PA, Chan, CC, Cheng, CY (Ching-Yu), Chew, EY, Chin, KA, Chowers, I, Clayton, DG, Cojocaru, R, Conley, YP, Cornes, BK, Daly, MJ, Dhillon, B, Edwards, A, Evangelou, E, Fagemess, J, Ferreyra, HA, Friedman, JS, Geirsdottir, A, George, RJ, Gieger, C, Gupta, N, Hagstrom, SA, Harding, SP, Haritoglou, C, Heckenlively, JR, Hoz, FG, Hughes, G, Ioannidis, JPA, Ishibashi, T, Joseph, P, Jun, G, Kamatani, Y, Katsanis, N, Keilhauer, CN, Khan, JC, Kim, IK, Kiyohara, Y, Klein, BEK, Klein, R, Kovach, JL, Kozak, I, Lee, CJ, Lee, KE, Lichtner, P, Lotery, AJ, Meitinger, T, Mitchell, P, Mohand-Said, S, Moore, AT, Morgan, DJ, Margaux, AM, Myers, CE, Naj, AC, Nakamura, Y, Okada, Y, Orlin, A, Ortube, MC, Othman, MI, Pappas, C, Park, KH, Pauer, GJT, Peachey, NS, Poch, O, Priya, RR, Reynolds, R, Richardson, AJ, Ripp, R, Rudolph, G, Ryu, E, Sahel, JA, Schaumberg, DA, Scholl, HPN, Schwartz, SG, Scott, WK, Shahid, H, Sigurdsson, H, Silvestri, G, Sivakumaran, TA, Smith, RT, Sobrin, L, Souied, EH, Stambolian, DE, Stefansson, H, Sturgill-Short, GM, Takahashi, A, Tosakulwong, N, Truitt, BJ, Tsironi, EE, Uitterlinden, André, Duijn, Cornelia, Vijaya, L, Vingerling, Hans, Vithana, EN, Webster, AR, Wichmann, HE, Winkler, TW, Wong, TY (Tien Yin), Wright, AF, Zelenika, D, Zhao, L, Zhang, M, Zhang, Kai, Klein, ML, Hageman, GS, Lathrop, GM, Stefansson, K, Allikmets, R, Baird, PN, Gorin, MB, Wang, JJ, Klaver, Caroline, Seddon, JM, Pericak-Vance, MA, Iyengar, SK, Yates, JRW, Swaroop, A, Weber, BHF, Kubo, M, DeAngelis, MM, Leveillard, T, Thorsteinsdottir, U, Haines, JL, Farrer, LA, Heid, IM, Abecasis, GR
المصدر: Fritsche , LG , Chen , W , Schu , M , Yaspan , BL , Yu , YG , Thorleifsson , G , Zack , DJ , Arakawa , S , Cipriani , V , Ripke , S , Igo , RP , Buitendijk , G , Sim , XL , Weeks , DE , Guymer , RH , Merriam , JE , Francis , PJ , Hannum , G , Agarwal , A , Armbrecht , AM , Audo , I , Aung , T , Barile , GR , Benchaboune , M , Bird , AC ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMM013909A, name=EMC MM-01-39-09-A, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCNIHES016401, name=EMC NIHES-01-64-01, /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR016001, name=EMC OR-01-60-01
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10Academic Journal
المؤلفون: Peachey, NS, Ray, TA, Florijn, R, Rowe, LB, Sjoerdsma, T, Contreras-Alcantara, S, Baba, K, Tosini, G, Pozdeyev, N, Iuvone, PM, Bojang, P, Pearring, JN, Simonsz, Huib, van Genderen, M, Birch, DG, Traboulsi, EI, Dorfman, A, Lopez, I, Ren, HN, Goldberg, AFX, Nishina, PM, Lachapelle, P, McCall, MA, Koenekoop, RK, Bergen, Arthur, Kamermans, M, Gregg, RG
المصدر: Peachey , NS , Ray , TA , Florijn , R , Rowe , LB , Sjoerdsma , T , Contreras-Alcantara , S , Baba , K , Tosini , G , Pozdeyev , N , Iuvone , PM , Bojang , P , Pearring , JN , Simonsz , H , van Genderen , M , Birch , DG , Traboulsi , EI , Dorfman , A , Lopez , I , Ren , HN , Goldberg , AFX , Nishina , PM , Lachapelle , P , McCall , MA , Koenekoop , RK , Bergen , ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR016001, name=EMC OR-01-60-01
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11
المؤلفون: Strauß, O, Rosenthal, R, Wadelius, C, Bakall, B, Gallemore, RP, Peachey, NS, Marmorstein, AD
المصدر: Evidenzbasierte Medizin-Anspruch und Wirklichkeit; 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft; 20040923-20040926; Berlin; DOC04dogSO.05.15 /20040922/
مصطلحات موضوعية: ddc: 610
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12Electronic Resource
Additional Titles: function of bestrophin and the light-peak in the EOG
المؤلفون: Strauß, O, Rosenthal, R, Wadelius, C, Bakall, B, Gallemore, RP, Peachey, NS, Marmorstein, AD
المصدر: Evidenzbasierte Medizin - Anspruch und Wirklichkeit; 102. Jahrestagung der Deutschen Ophthalmologischen Gesellschaft; 20040923-20040926; Berlin; DOC04dogSO.05.15 /20040922/
مصطلحات الفهرس: ddc: 610, conferenceObject
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13
المؤلفون: E. Simpson, Melamud A, Daniel C. Chung, G.–Q. Shen, Peachey Ns, Xi Q, Liang Li, Elias I. Traboulsi, Zegarra H, Qing Kenneth Wang, Stephanie A. Hagstrom
المصدر: Journal of Medical Genetics. 43:e27-e27
مصطلحات موضوعية: Genetics, medicine.medical_specialty, Visual acuity, genetic structures, Haplotype, Biology, Fundus (eye), Electronic Letter, medicine.disease, eye diseases, Xq28, Genetic marker, Retinitis pigmentosa, medicine, Medical genetics, medicine.symptom, Genotyping, Genetics (clinical)
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14Academic Journal
المؤلفون: Thurtell MJ, Bala E, Yaniglos SS, Rucker JC, Peachey NS, Leigh RJ, Thurtell, M J, Bala, E, Yaniglos, S S, Rucker, J C, Peachey, N S, Leigh, R J
المصدر: Neurology; 12/1/2009, Vol. 73 Issue 22, p1849-1857, 9p