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1Academic Journal
المؤلفون: Razavi, H, Blach, S, Razavi-Shearers, D, Abaalkhail, F, Abbas, Z, Abdallah, A, Ferreira, PA, Abu Raddad, LJ, Adda, D, Agarwal, K, Aghemo, A, Ahmed, A, Al-Busafi, SA, Al-hamoudi, W, Al-Kaabi, S, Al-Romaihi, H, Aljarallah, B, AlNaamani, K, Alqahtani, S, Alswat, K, Altraif, I, Asselah, T, Bacon, B, Bessone, F, Bizri, AR, Block, T, Bonino, F, BranclaoMello, CE, Browny, K, Bruggmann, P, Brunetto, MR, Buti, M, Cabezas, J, Calleja, JL, Batanjer, EC, Chan, HLY, Chang, H, Chen, CJ, Christensen, PB, Chuang, WL, Cisneros, L, Cohen, C, Colombo, M, Conway, B, Cooper, C, Craxi, A, Crespo, J, Croes, E, Cryer, D, de Barros, FPC, Derbala, M, Dillon, J, Doss, W, Dou, XG, Doyle, J, Duberg, AS, Dugan, E, Dunn, R, Dusheiko, G, El Khayat, H, EI-Sayed, MH, Eshraghian, A, Esmat, G, Mur, RE, Ezzat, S, Falconer, K, Fassio, E, Ferrinho, P, Flamm, S, Flisiak, R, Foster, G, Fung, J, Garcia-Samaniego, J, Gish, RG, Goncales, F, Halota, W, Hamoudi, W, Hassany, M, Hatzakis, A, Hay, S, Himatt, S, Hoepelman, IM, Hsu, YC, Hui, YT, Hunyady, B, Jacobson, I, Janjua, N, Janssen, H, Jarcuska, P, Kabagambe, K, Kanto, T, Kao, JH, Kaymakoglu, S, Kershenobich, D, Khamis, F, Kim, DJ, Kim, Y, Kondili, LA, KottiliI, S, Kramvis, A, Kugelmas, M, Kurosaki, M, Lacombe, K, Lagging, M, Lao, WC, Lavanchy, D, Lazarus, JV, Lee, A, Lee, SS, Levyl, M, Liakina, V, Lim, Y, Liu, S, Maddrey, W, Malekzade, R, Marinho, RT, Mathur, P, Maticic, M, Correa, MCM, Mera, J, Merat, S, Mogawer, S, Mohamed, R, Muellhaupti, B, Muljono, D, Mostafa, I, Nahum, MS, Nawaz, A, Negro, F, Ninburg, M, Ning, Q, Ntiri-Reid, B, Nymadawa, P, Oevrehus, A, Ormeci, N, Orrego, M, Osman, A, Oyunsuren, T, Pant, C, Papaevangelou, V, Papatheodoridis, G, Popping, S, Prasad, P, Prithiviputh, R, Qureshi, H, Ramji, A, Razavi-Shearer, K, Reddy, R, Remak, W, Richter, C, Ridruejo, E, Robaeys, G, Robert, S, Roberts, L, Roudot-Thoraval, F, Saab, S, Said, S, Salamat, A, Sanai, F, Sanchez-Avila, JF, Schiff, E, Schinazi, R, Sebastiani, G, Seguin-Devaux, C, Shanmugam, RP, Sharara, A, Shilton, S, Shouval, D, Sievert, W, Simonova, M, Sohrabpour, AA, Sonderup, M, Soza, A, Spearman, CW, Steinfurth, N, Sulkowski, M, Tan, SS, Tanaka, J, Tashi, D, Thein, HH, Thompson, P, Tolmane, I, Toy, M, Valantinas, J, Van de Vijver, D, Velez-Moller, P, Vince, A, Waked, I, Wang, S, Wedemeyer, H, Wong, V, Xie, Q, Yamada, S, Yang, HI, Yesmembetov, K, Yilmaz, Y, Younossi, Z, Yu, ML, Yuen, MF, Yurdaydin, C, Yusuf, A, Zekry, A, Zeuzem, S
المصدر: Journal of viral hepatitis. 28(1):12-19
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Malka, S., Biswas, P., Berry, A.M., Sangermano, R., Ullah, M., Lin, S., D'Antonio, M., Jestin, A., Jiao, X., Quinodoz, M., Sullivan, L., Gardner, J.C., Place, E.M., Michaelides, M., Kaminska, K., Mahroo, O.A., Schiff, E., Wright, G., Cancellieri, F., Vaclavik, V., Santos, C., Rehman, A.U., Mehrotra, S., Azhar Baig, H.M., Iqbal, M., Ansar, M., Santos, L.C., Sousa, A.B., Tran, V.H., Matsui, H., Bhatia, A., Naeem, M.A., Akram, S.J., Akram, J., Riazuddin, S., Ayuso, C., Pierce, E.A., Hardcastle, A.J., Riazuddin, S.A., Frazer, K.A., Hejtmancik, J.F., Rivolta, C., Bujakowska, K.M., Arno, G., Webster, A.R., Ayyagari, R.
المصدر: American journal of human genetics, vol. 111, no. 9, pp. 2012-2030
مصطلحات موضوعية: Humans, Retinitis Pigmentosa/genetics, Retinitis Pigmentosa/pathology, Male, Female, Polymorphism, Single Nucleotide, Pedigree, Membrane Proteins/genetics, Adult, Alleles, Haplotypes, Middle Aged, Heterozygote, Phenotype, Homozygote, Adolescent, African ancestry, South Asian, ancestral allele, ciliopathy, equity of genetic testing, ethnic genetic diversity, gene expression, non-coding genetic variation, retinal dystrophy, retinitis pigmentosa
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/39191256; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_AFAF84A2182F6; https://serval.unil.ch/notice/serval:BIB_AFAF84A2182F; https://serval.unil.ch/resource/serval:BIB_AFAF84A2182F.P001/REF.pdf
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3Academic Journal
المؤلفون: Mishra, AV, Vermeirsch, S, Lin, S, Martin-Gutierrez, MP, Simcoe, M, Pontikos, N, Schiff, E, de Guimarães, TAC, Hysi, PG, Michaelides, M, Arno, G, Webster, AR, Mahroo, OA
المصدر: Investigative Ophthalmology & Visual Science , 65 (5) , Article 9. (2024)
مصطلحات موضوعية: Humans, Female, Male, Sex Distribution, Macular Degeneration, Extracellular Matrix Proteins, Eye Proteins, Peripherins, Tissue Inhibitor of Metalloproteinase-3
وصف الملف: application/pdf
Relation: https://discovery.ucl.ac.uk/id/eprint/10192442/1/i1552-5783-65-5-9_1714718508.02516.pdf; https://discovery.ucl.ac.uk/id/eprint/10192442/
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4Academic Journal
المؤلفون: Aychoua, N, Schiff, E, Malka, S, Tailor, VK, Chan, HW, Oluonye, N, Theodorou, M, Moosajee, M
المصدر: Frontiers in Genetics , 13 , Article 977806. (2022)
مصطلحات موضوعية: FRMD7 gene, GPR143 gene, albinism, nystagmus, whole-genome sequencing
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10156689/1/fgene-13-977806.pdf; https://discovery.ucl.ac.uk/id/eprint/10156689/
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5Academic Journal
المؤلفون: Tanner, A, Chan, HW, Schiff, E, Mahroo, OM, Pulido, JS
المصدر: BMJ Open Ophthalmology , 7 (1) , Article e001079. (2022)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10156296/1/Tanner_et_all_IRD_genes_mutational_landscape_BMJ_Open_Ophthalmology.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10156296/
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6Academic Journal
المؤلفون: Harding, P, Toms, M, Schiff, E, Owen, N, Bell, S, Lloyd, IC, Moosajee, M
المصدر: International Journal of Molecular Sciences , 22 (4) , Article 2190. (2021)
مصطلحات موضوعية: EPHA2, microphthalmia, cataracts, congenital, eye, development, whole genome sequencing (WGS), next-generation sequencing (NGS), genetics, zebrafish
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10123470/1/ijms-22-02190-v2.pdf; https://discovery.ucl.ac.uk/id/eprint/10123470/
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7Academic Journal
المؤلفون: Yerushalmi, G. M., Shavit, T., Avraham, S., Youngster, M., Kedem, A., Gat, I., Dorofeyeva, U. S., Mashiach, S., Schiff, E., Shulman, A., Seidman, D. S., Wiser, A., Maman, E., Hourvitz, A., Baum, M.
المصدر: Scientific Reports ; volume 11, issue 1 ; ISSN 2045-2322
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8Academic Journal
المؤلفون: Dinca, S. A., Schiff, E. A.
المساهمون: National Science Foundation
المصدر: ACS Applied Energy Materials ; volume 4, issue 7, page 6711-6718 ; ISSN 2574-0962 2574-0962
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9
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10Report
المؤلفون: Bowick, M. J., Chandar, L., Schiff, E. A., Srivastava, A. M.
المصدر: Science 263:943-945,1994
مصطلحات موضوعية: High Energy Physics - Phenomenology, Condensed Matter, High Energy Physics - Theory
URL الوصول: http://arxiv.org/abs/hep-ph/9208233
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11Academic JournalA clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
المؤلفون: Ba-Abbad, R, Robson, AG, Mahroo, OA, Wright, G, Schiff, E, Duignan, ES, Michaelides, M, Arno, G, Webster, AR
المصدر: Eye (2020) (In press).
مصطلحات موضوعية: Disease genetics, Hereditary eye disease
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10106245/3/Michaelides_s41433-020-1045-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10106245/
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12Academic Journal
المؤلفون: Pontikos, N, Arno, G, Jurkute, N, Schiff, E, Ba-Abbad, R, Malka, S, Gimenez, A, Georgiou, M, Wright, G, Armengol, M, Knight, H, Katz, M, Moosajee, M, Yu-Wai-Man, P, Moore, AT, Michaelides, M, Webster, AR, Mahroo, OA
المصدر: Ophthalmology (2020) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10096370/1/1-s2.0-S0161642020303328-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10096370/
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13Academic Journal
المؤلفون: Younossi Z. M., Ratziu V., Loomba R., Rinella M., Anstee Q. M., Goodman Z., Bedossa P., Geier A., Beckebaum S., Newsome P. N., Sheridan D., Sheikh M. Y., Trotter J., Knapple W., Lawitz E., Abdelmalek M. F., Kowdley K. V., Montano-Loza A. J., Boursier J., Mathurin P., Bugianesi E., Mazzella G., Olveira A., Cortez-Pinto H., Graupera I., Orr D., Gluud L. L., Dufour J. -F., Shapiro D., Campagna J., Zaru L., MacConell L., Shringarpure R., Harrison S., Sanyal A. J., Abdelmalek M., Abrams G., Aguilar H., Ahmed A., Aigner E., Aithal G., Ala A., Alazawi W., Albillos A., Allison M., Al-Shamma S., Andrade R., Andreone P., Angelico M., Ankoma-Sey V., Anstee Q., Anty R., Araya V., Arenas Ruiz J. I., Arkkila P., Arora M., Asselah T., Au J., Ayonrinde O., Bailey R. J., Balakrishnan M., Bambha K., Bansal M., Barritt S., Bate J., Beato J., Behari J., Bellot P., Ben Ari Z., Bennett M., Berenguer M., Beretta-Piccoli B. T., Berg T., Bonacini M., Bonet L., Borg B., Bourliere M., Bowman W., Bradley D., Brankovic M., Braun M., Bronowicki J. -P., Bruno S., Cai C., Calleja Panero J. L., Carey E., Carmiel M., Carrion J. A., Cave M., Chagas C., Chami T., Chang A., Coates A., Cobbold J., Corey K., Corless L., Crespo J., Cruz Pereira O., de Ledinghen V., deLemos A., Diago M., Dugalic P., Dunn W., Elkhashab M., Epstein M., Escudero-Garcia M. D., Etzion O., Evans L., Falcone R., Fernandez C., Ferreira J., Fink S., Finnegan K., Firpi-Morell R., Floreani A., Fontanges T., Ford R., Forrest E., Fowell A., Fracanzani A. L., Francque S., Freilich B., Frias J., Fuchs M., Fuentes J., Galambos M., Gallegos J., Geerts A., George J., Ghali M., Ghalib R., Gholam P., Gines P., Gitlin N., Goeser T., Goff J., Gordon S., Gordon F., Goria O., Greer S., Grigorian A., Gronbaek H., Guillaume M., Gunaratnam N., Halegoua-De Marzio D., Hameed B., Hametner S., Hamilton J., Hartleb M., Hassanein T., Haussinger D., Hellstern P., Herring R., Heurich E., Hezode C., Hinrichsen H., Holland Fischer P., Horsmans Y., Huang J., Jakiche A., Jeffers L., Jones B., Jorge R., Jorquera F., Kahraman A., Kaita K., Karyotakis N., Kayali Z., Kechagias S., Kepczyk T., Khalili M., Khallafi H., Kluwe J., Kohli A., Korenblat K., Kowdley K., Krag A., Krause R., Kremer A., Krok K., Krstic M., Kugelmas M., Kumar S., Labarriere D., Lai M., Lampertico P., Lee A., Leroy V., Lidofsky S., Lim T. H., Lim J., Lipkis D., Little E., Lonardo A., Long M., Lurie Y., Macedo G., Makara M., Maliakkal B., Manns M., Manousou P., Mantry P., Marchesini G., Marinho C., Marotta P., Marschall H. -U., Mayo M., McCullen M., McLaughlin W., Merriman R., Modi A., Molina E., Montano-Loza A., Monteverde C., Moreea S., Moreno C., Morisco F., Mubarak A., Muellhaupt B., Mukherjee S., Muller T., Nagorni A., Naik J., Neff G., Nevah M., Newsome P., Nguyen-Khac E., Noureddin M., Oben J., Orlent H., Orr J., Ortiz-Lasanta G., Ozenne V., Pandya P., Paredes A., Park J., Patel J., Patel K., Uta M., Patton H., Peck-Radosavljevic M., Petta S., Pianko S., Piekarska A., Pimstone N., Pockros P., Pol S., Porayko M., Poulos J., Pound D., Pouzar J., Presa Ramos J., Pyrsopoulos N., Rafiq N., Muller K., Ramji A., Ravinuthala R., Reddy C., Reddy K G G., Reddy K R K. R., Regenstein F., Reindollar R., Riera A., Rivera Acosta J., Robaeys G., Roberts S., Rodriguez-Perez F., Romero-Gomez M., Rubin R., Rumi M., Rushbrook S., Rust C., Ryan M., Safadi R., Said A., Salminen K., Samuel D., Santoro J., Sanyal A., Sarkar S., Schaeffer C., Schattenberg J., Schiefke I., Schiff E., Schmidt W., Schneider J., Schouten J., Schultz M., Sebastiani G., Semela D., Sepe T., Sheikh A., Sheikh M., Sherman K., Shibolet O., Shiffman M., Siddique A., Sieberhagen C., Sigal S., Sikorska K., Simon K., Sinclair M., Skoien R., Solis J., Sood S., Souder B., Spivey J., Stal P., Stinton L., Strasser S., Svorcan P., Szabo G., Talal A., Tam E., Tetri B., Thuluvath P., Tobias H., Tomasiewicz K., Torres D., Trauner M., Trautwein C., Tsochatzis E., Unitt E., Vargas V., Varkonyi I., Veitsman E., Vespasiani Gentilucci U., Victor D., Vierling J., Vincent C., Vincze A., von der Ohe M., Von Roenn N., Vuppalanchi R., Waters M., Watt K., Weltman M., Wieland A., Wiener G., Williams A A., Williams J J., Wilson J., Yataco M., Yoshida E., Younes Z., Yuan L., Zivony A., Zogg D., Zoller H., Zoulim F., Zuckerman E., Zuin M.
المساهمون: Younossi Z.M., Ratziu V., Loomba R., Rinella M., Anstee Q.M., Goodman Z., Bedossa P., Geier A., Beckebaum S., Newsome P.N., Sheridan D., Sheikh M.Y., Trotter J., Knapple W., Lawitz E., Abdelmalek M.F., Kowdley K.V., Montano-Loza A.J., Boursier J., Mathurin P., Bugianesi E., Mazzella G., Olveira A., Cortez-Pinto H., Graupera I., Orr D., Gluud L.L., Dufour J.-F., Shapiro D., Campagna J., Zaru L., MacConell L., Shringarpure R., Harrison S., Sanyal A.J., Abdelmalek M., Abrams G., Aguilar H., Ahmed A., Aigner E., Aithal G., Ala A., Alazawi W., Albillos A., Allison M., Al-Shamma S., Andrade R., Andreone P., Angelico M., Ankoma-Sey V., Anstee Q., Anty R., Araya V., Arenas Ruiz J.I., Arkkila P., Arora M., Asselah T., Au J., Ayonrinde O., Bailey R.J., Balakrishnan M., Bambha K., Bansal M., Barritt S., Bate J., Beato J., Behari J., Bellot P., Ben Ari Z., Bennett M., Berenguer M., Beretta-Piccoli B.T., Berg T., Bonacini M., Bonet L., Borg B., Bourliere M., Bowman W., Bradley D., Brankovic M., Braun M., Bronowicki J.-P., Bruno S., Cai C., Calleja Panero J.L., Carey E., Carmiel M., Carrion J.A., Cave M., Chagas C., Chami T., Chang A., Coates A., Cobbold J., Corey K., Corless L., Crespo J., Cruz Pereira O., de Ledinghen V., deLemos A.
مصطلحات موضوعية: Administration, Oral, Biomarker, Biopsy, Chenodeoxycholic Acid, Double-Blind Method, Female, Human, Liver Function Test, Male, Middle Aged, Non-alcoholic Fatty Liver Disease
Relation: info:eu-repo/semantics/altIdentifier/pmid/31813633; info:eu-repo/semantics/altIdentifier/wos/WOS:000502546300028; volume:394; issue:10215; firstpage:2184; lastpage:2196; numberofpages:13; journal:THE LANCET; http://hdl.handle.net/2318/1725556; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85076128877; http://www.journals.elsevier.com/the-lancet/
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14Academic Journal
المؤلفون: Rivas, MA, Avila, BE, Koskela, J, Huang, H, Stevens, C, Pirinen, M, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, Glaser, B, Peter, I, Atzmon, G, Barzilai, N, Levine, AP, Schiff, E, Pontikos, N, Weisburd, B, Lek, M, Karczewski, KJ, Bloom, J, Minikel, EV, Petersen, B-S, Beaugerie, L, Seksik, P, Cosnes, J, Schreiber, S, Bokemeyer, B, Bethge, J, Heap, G, Ahmad, T, Plagnol, V, Segal, AW, Targan, S, Turner, D, Saavalainen, P, Farkkila, M, Kontula, K, Palotie, A, Brant, SR, Duerr, RH, Silverberg, MS, Rioux, JD, Weersma, RK, Franke, A, Jostins, L, Anderson, CA, Barrett, JC, MacArthur, DG, Jalas, C, Sokol, H, Xavier, RJ, Pulver, A, Cho, JH, McGovern, DPB, Daly, MJ
المصدر: PLoS Genetics , 15 (5) , Article e1008190. (2019)
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10078676/1/Correction%20Insights%20into%20the%20genetic%20epidemiology%20of%20Crohns%20and%20rare%20diseases%20in%20the%20Ashkenazi%20Jewish%20population.pdf; https://discovery.ucl.ac.uk/id/eprint/10078676/
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15Supplementary Material for: Acupuncture in the Treatment of Panitumumab Skin Toxicity: A Case Report
المؤلفون: Nahumi T. (14318346), Levy I. (14318349), Schiff E. (14318352), Attias S. (14318355), Amromin T. (14318358), Agbarya A. (14318361)
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16Academic Journal
المؤلفون: Sazonovs A., Stevens C. R., Venkataraman G. R., Yuan K., Avila B., Abreu M. T., Ahmad T., Allez M., Ananthakrishnan A. N., Atzmon G., Baras A., Barrett J. C., Barzilai N., Beaugerie L., Beecham A., Bernstein C. N., Bitton A., Bokemeyer B., Chan A., Chung D., Cleynen I., Cosnes J., Cutler D. J., Daly A., Damas O. M., Datta L. W., Dawany N., Devoto M., Dodge S., Ellinghaus E., Fachal L., Farkkila M., Faubion W., Ferreira M., Franchimont D., Gabriel S. B., Ge T., Georges M., Gettler K., Giri M., Glaser B., Goerg S., Goyette P., Graham D., Hamalainen E., Haritunians T., Heap G. A., Hiltunen M., Hoeppner M., Horowitz J. E., Irving P., Iyer V., Jalas C., Kelsen J., Khalili H., Kirschner B. S., Kontula K., Koskela J. T., Kugathasan S., Kupcinskas J., Lamb C. A., Laudes M., Levesque C., Levine A. P., Lewis J. D., Liefferinckx C., Loescher B. -S., Louis E., Mansfield J., May S., McCauley J. L., Mengesha E., Mni M., Moayyedi P., Moran C. J., Newberry R. D., O'Charoen S., Okou D. T., Oldenburg B., Ostrer H., Palotie A., Paquette J., Pekow J., Peter I., Pierik M. J., Ponsioen C. Y., Pontikos N., Prescott N., Pulver A. E., Rahmouni S., Rice D. L., Saavalainen P., Sands B., Sartor R. B., Schiff E. R., Schreiber S., Schumm L. P., Segal A. W., Seksik P., Shawky R., Sheikh S. Z., Silverberg M. S., Simmons A., Skeiceviciene J., Sokol H., Solomonson M., Somineni H., Sun D., Targan S., Turner D., Uhlig H. H., van der Meulen A. E., Vermeire S., Verstockt S., Voskuil M. D., Winter H. S., Young J., Duerr R. H., Franke A., Brant S. R., Cho J., Weersma R. K., Parkes M., Xavier R. J., Rivas M. A., Rioux J. D., McGovern D. P. B., Huang H., Anderson C. A., Daly M. J.
المساهمون: Sazonovs, A., Stevens, C. R., Venkataraman, G. R., Yuan, K., Avila, B., Abreu, M. T., Ahmad, T., Allez, M., Ananthakrishnan, A. N., Atzmon, G., Baras, A., Barrett, J. C., Barzilai, N., Beaugerie, L., Beecham, A., Bernstein, C. N., Bitton, A., Bokemeyer, B., Chan, A., Chung, D., Cleynen, I., Cosnes, J., Cutler, D. J., Daly, A., Damas, O. M., Datta, L. W., Dawany, N., Devoto, M., Dodge, S., Ellinghaus, E., Fachal, L., Farkkila, M., Faubion, W., Ferreira, M., Franchimont, D., Gabriel, S. B., Ge, T., Georges, M., Gettler, K., Giri, M., Glaser, B., Goerg, S., Goyette, P., Graham, D., Hamalainen, E., Haritunians, T., Heap, G. A., Hiltunen, M., Hoeppner, M., Horowitz, J. E., Irving, P., Iyer, V., Jalas, C., Kelsen, J., Khalili, H., Kirschner, B. S., Kontula, K., Koskela, J. T., Kugathasan, S., Kupcinskas, J., Lamb, C. A., Laudes, M., Levesque, C., Levine, A. P., Lewis, J. D., Liefferinckx, C., Loescher, B. -S., Louis, E., Mansfield, J., May, S., Mccauley, J. L., Mengesha, E., Mni, M., Moayyedi, P., Moran, C. J., Newberry, R. D., O'Charoen, S., Okou, D. T., Oldenburg, B., Ostrer, H., Palotie, A., Paquette, J., Pekow, J., Peter, I., Pierik, M. J., Ponsioen, C. Y., Pontikos, N., Prescott, N., Pulver, A. E., Rahmouni, S., Rice, D. L., Saavalainen, P., Sands, B., Sartor, R. B., Schiff, E. R., Schreiber, S., Schumm, L. P., Segal, A. W., Seksik, P., Shawky, R.
مصطلحات موضوعية: Crihn disease, exome sequencing
Relation: info:eu-repo/semantics/altIdentifier/pmid/36038634; info:eu-repo/semantics/altIdentifier/wos/WOS:000847272000001; volume:54; issue:9; firstpage:1275; lastpage:1283; numberofpages:9; journal:NATURE GENETICS; https://hdl.handle.net/11573/1685994; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85137084709
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17Academic Journal
المؤلفون: Rivas, MA, Avila, BE, Koskela, J, Huang, H, Stevens, C, Pirinen, M, Haritunians, T, Neale, BM, Kurki, M, Ganna, A, Graham, D, Glaser, B, Peter, I, Atzmon, G, Barzilai, N, Levine, AP, Schiff, E, Pontikos, N, Weisburd, B, Lek, M, Karczewski, KJ, Bloom, J, Minikel, EV, Petersen, B-S, Beaugerie, L, Seksik, P, Cosnes, J, Schreiber, S, Bokemeyer, B, Bethge, J, International IBD Genetics Consortium, NIDDK IBD Genetics Consortium, T2D-GENES Consortium, Heap, G, Ahmad, T, Plagnol, V, Segal, AW, Targan, S, Turner, D, Saavalainen, P, Farkkila, M, Kontula, K, Palotie, A, Brant, SR, Duerr, RH, Silverberg, MS, Rioux, JD, Weersma, RK, Franke, A, Jostins, L, Anderson, CA, Barrett, JC, MacArthur, DG, Jalas, C, Sokol, H, Xavier, RJ, Pulver, A, Cho, JH, McGovern, DPB, Daly, MJ
المساهمون: Williams, SM
Relation: pii: PGENETICS-D-17-02189; Rivas, M. A., Avila, B. E., Koskela, J., Huang, H., Stevens, C., Pirinen, M., Haritunians, T., Neale, B. M., Kurki, M., Ganna, A., Graham, D., Glaser, B., Peter, I., Atzmon, G., Barzilai, N., Levine, A. P., Schiff, E., Pontikos, N., Weisburd, B. ,. Daly, M. J. (2018). Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population. PLoS Genet, 14 (5), pp.e1007329-. https://doi.org/10.1371/journal.pgen.1007329.; http://hdl.handle.net/11343/273297
الاتاحة: http://hdl.handle.net/11343/273297
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18Academic JournalSeqfam: A python package for analysis of Next Generation Sequencing DNA data in families [version 1]
المؤلفون: Frampton, M, Schiff, E, Pontikos, N, Segal, A, Levine, A
المصدر: F1000Research , 7 , Article 281. (2018)
مصطلحات موضوعية: python, bioinformatics, NGS, DNA, pedigree-information, gene-drop, gene-burden, kinship, mapreduce
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10054003/1/838ebb02-20e8-441b-b06a-e70379e444e9_13930_-_Matthew_Frampton.pdf; https://discovery.ucl.ac.uk/id/eprint/10054003/
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19Academic Journal
المؤلفون: Schiff, E. R., Frampton, M., Ben-Yosef, N., Avila, B. E., Semplici, F., Pontikos, N., Bloom, S. L., McCartney, S. A., Vega, R., Lovat, L. B., Wood, E., Hart, A., Israeli, E., Crespi, D., Furman, M. A., Mann, S., Murray, C. D., Segal, A. W., Levine, A. P.
المساهمون: Charles Wolfson Charitable Trust, Medical Research Foundation
المصدر: Human Genetics ; volume 137, issue 9, page 723-734 ; ISSN 0340-6717 1432-1203
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20Academic Journal
المؤلفون: Sabatine, Marc S., Giugliano, Robert P., Keech, Anthony C., Honarpour, Narimon, Wiviott, Stephen D., Murphy, Sabina A., Kuder, Julia F., Wang, Huei, Liu, Thomas, Wasserman, Scott M., Sever, Peter S., Pedersen, Terje R. Fish MP, Abrahamsen TE, Im K, Kanevsky E, Bonaca MP, Lira Pineda A, Hanlon K, Knusel B, Somaratne R, Kurtz C, Scott R, Accini Mendoza JL, Amerena J, Badariene J, Burgess L, Ceska R, Charng MJ, Choi D, Cobos JL, Dan GA, De Ferrari GM, Deedwania PC, Chopra VK, Erglis A, Ezhov MV, Ferreira J, Filipová S, Gaciong ZA, Pasierski T, Georgiev BG, Gonzalez-Galvez G, Gouni-Berthold I, Schäufele T, Hirayama A, Huber K, Rammer M, Kjaerulf Jensen H, Wermuth S, Jiang L, Jukema JW, Kraydashenko O, Leiter LA, Lewis BS, López-Miranda J, Lorenzatti AJ, Mach F, McAdam B, Nilsson L, Olsson Å, Rallidis L, Rogelio GG, Kerr Saraiva JF, Scheen A, Schiele F, Scott RS, Connolly D, Siu CW, Tay L, Thorgeirsson G, Tikkanen MJ, Tokgozoglu SL, Toth K, Viigimaa M, Wan Ahmad WA, Hennekens CH, Andreotti F, Baigent C, Brown WV, Davis BR, Newcomer JW, Wood SK, LaRosa J, Ansell B, Olsson A, Lowe C, Zahn L, Awtry E, Berger C, Croce K, Desai A, Gelfand E, Ho C, Leeman D, Link M, Norden A, Pande A, Rost N, Ruberg F, Silverman S, Singhal A, Vita J, Mackinnon I, Vogel DR, Leon de la Fuente R, Perna E, Amuchastegui M, Pacora F, Hershson A, Blumberg E, Glenny JA, Colombo H, Cuadrado JA, Nicolosi L, Rojas CG, Ulla MR, Hasbani EG, Cuneo C, Lopez Santi RG, Sanabria HD, Hrabar A, Lozada A, Begg A, Lehman S, Wittert G, Juergens C, Kostner K, Beltrame J, Simpson R, Sinhal A, Adams M, Kritharides L, Roberts Thomson P, Cross D, Thompson P, Van Gaal W, Cox N, Farshid A, Hammett C, Garrahy P, Prasan A, Horrigan M, Ebenbichler C, Hanusch U, Prager R, Schernthaner G, Luger A, Siostrzonek P, Toplak H, Bergler-Klein J, Paulweber B, Sinzinger H, Buysschaert I, Thoeng J, Vandekerckhove H, Catez E, Verheye S, Descamps O, Hoffer E, Wollaert B, Chenu P, van de Borne P, De Meulemeester M, Friart A, Charlier F, De Raedt H, Rietzschel E, Roelandt R, Lalmand J, Tavares Russo LA, Reis G, Duarte Barbosa EC, Vidotti MH, Fernandes Manenti ER, Dutra O, Leaes PE, Rech RL, Bertolim Precoma D, Nicolau JC, Amoedo R, Eliaschewitz FG, Pereira A, Kurtz Lisboa HR, Soares Piegas L, Cunha Borges JL, Ferreira Rossi PR, Pimentel Filho P, Bodanese LC, de Sa Cunha R, Moura Jorge JC, Ardito WR, Barroso de Souza WK, Hissa M, Izar MC, Manolova A, Kitova L, Kinova E, Tzekova M, Velchev V, Tarnovska-Kadreva R, Gotchev D, Petrov I, Raev D, Trendafilova-Lazarova D, Yotov Y, Lazov P, Rahimi S, St Amour E, Constance C, Pesant Y, Hess A, Anderson T, Sussex B, Henein S, Tsoukas G, Pandey AS, Bergeron J, Hart R, Gosselin G, Chehayeb R, Hamet P, Hartleib M, Mukherjee A, Halperin F, Petrella R, Bhargava R, Lonn E, Sabbah E, Bata I, Cha J, Gaudet D, Chapman K, Murthy D, Nigro F, Rupka D, Gossard D, Gupta M, Dowell A, Mansour S, Baass A, Geadah C, Huynh T, Peterson S, Poirier P, Sabe-Affaki G, Vertes G, Crowley D, Duchesne L, Pincetti Jofre CP, Potthoff Cardenas S, Conejeros Kindel C, Saavedra Gajardo VA, Lanas Zanetti F, Sepulveda Varela PA, Stockins Fernandez BA, Li W, Li D, Zhao S, Li Z, Wang J, Yang Y, Zhang L, Yang P, Zhang X, Huang H, Xue L, Zheng Z, Huang W, Dai H, Su H, Zeng X, Zheng Y, Tang Y, Yao Z, Sun Y, Du Y, Ge Z, Yan J, Chen X, Liu F, Pei H, Yang X, Cui H, Gu Y, Yang Z, Li J, Lian Y, Cui Y, Wang D, Jiang J, Li X, Chen J, Mo Z, Xu P, He Y, Zhou C, Qu P, Zhu Y, Liu Y, Shen X, Gao X, Terront Lozano MA, Moncada Corredor MA, Hernandez Triana E, Botero Lopez R, Coronel Arroyo JA, Quintero Baiz AE, Sanchez Vallejo G, Arana Londoño C, Molina de Salazar DI, Castellanos Bueno R, Manzur Jattin F, Cure Cure CA, Sotomayor Herazo A, Spinar J, Hala T, Machkova M, Klimsa Z, Polasek R, Jerabek O, Kazdera P, Pozdisek Z, Vaclavik J, Frana P, Elbl L, Kucera D, Kryza R, Malecha J, Reichert P, Sochor K, Ludka O, Kellnerova I, Peterka K, Zidkova E, Cech V, Brabec T, Fiserova N, Kvasnicka J, Rosolova H, Nemecek E, Adamkova V, Dunaj M, Pojsl S, Cepelak M, Podpera I, Kuchar L, Rysava D, Burianova H, Spinarova L, Skrobakova J, Charvat J, Homza M, Zemanek J, Koleckar P, Karen I, Krupicka J, Blaha V, Matuska J, Brotanek J, Cifkova R, Kuchar R, Vomacka Z, Kosek Z, Hulinsky V, Krejcova H, Kuchar J, Jelinek Z, Jelinek P, Markdanner Lindgren L, Saetre Lihn A, Korsgaard Thomsen K, Bronnum-Schou J, Nielsen H, Nielsen T, Egstrup K, Klausen IC, Mickley H, Hove J, Jeppesen J, Melchior T, Schmidt EB, Valter I, Rosenthal A, Kaik J, Kork A, Alt I, Strand J, Nieminen S, Kahri J, Suomi J, Nyman K, Strandberg TE, Piippo T, Savolainen M, Vikman S, Pucheu Y, Cariou B, Henry P, Ferrari E, Montalescot G, Ferrieres J, Roubille F, Bonnet B, Angoulvant D, Range G, Bammert A, Delarche N, Mariat C, Cayla G, Durlach V, Coisne D, Paillard F, Rouzier R, Goralski M, Khanoyan P, Cottin Y, Ziegler O, Khalife K, Le Corvoisier P, Motreff P, Spaulding C, VanBelle E, Bourhaial H, Opitz C, Kahrmann G, Contzen C, Appel K, Schenkenberger I, Rinke A, Trenk D, Maus O, Karakas M, Hanefeld M, Darius H, Hetzel G, Münzel T, Wöhrle J, Stawowy P, Marten I, Isermann B, Kast P, Vorpahl M, Bosiljanoff P, Hengstenberg C, Kassner U, Salbach P, Fischer M, Steiner S, Wagner S, Kraatz U, von Hodenberg E, Weyland K, Mantas I, Tziakas D, Bousboulas S, Patsilinakos S, Mertzanos G, Panagoulis C, Bilianou H, Skoumas I, Elisaf M, Manolis A, Moschos N, Kochiadakis G, Ntaios G, Richter D, Athyros V, Kolovou G, Danias P, Melidonis A, Fan KYY, Siu SC, Hornyik A, Lakatos F, Zilahi Z, Nagy K, Laszlo Z, Peterfai E, Lupkovics G, Andreka P, Merkely B, Herczeg B, Piros GA, Salamon C, Mark L, Papp A, Szakal I, Edes I, Mohacsi A, Tomcsanyi J, Hajko E, Nagy A, Papp E, Kiss R, Karadi I, Sigurdsson A, Jain A, Pai R, Kothiwale V, Kulkarni G, Mahajan A, Aggarwal S, Mehta V, Rajadhyaksha G, Joshi A, Khandait V, Parmar M, Tyagi S, Airody Govinda R, Dwivedi SK, Parikh K, Pothineni RB, Solanki B, O’Donnell M, Crean P, Barton J, Shechter M, Shotan A, Klutstein M, Chorin E, Gavish D, Kracoff O, Atar S, Rigler S, Hasin Y, Schiff E, Merlini P, Rapezzi C, Pirro M, Gonnelli S, Floresta AM, Mennuni M, Ardissino D, Senni M, Marenzi G, Marcucci R, Sampietro T, Cosmi F, Perrone Filardi P, De Caterina R, Fedele Francesco, Moretti L, Biasucci LM, Ferri C, Go Y, Kiyosue A, Higashi Y, Tokunaga T, Kawasaki T, Sakagami S, Namba S, Saku K, Oku K, Arakawa T, Iida H, Nakamura Y, Yamamoto K, Hata Y, Katsuda Y, Koga Y, Shimizu M, Uehara H, Kajiyama S, Okamoto H, Shinozaki T, Fujino Y, Funazaki T, Higa N, Kaigawa K, Koike A, Nakane H, Sato K, Satoh Y, Shirasawa K, Sugino H, Tanabe J, Uemura O, Yoshimichi G, Akai A, Himeno H, Inage T, Inoko M, Kadokami T, Noguchi Y, Yamashita K, Yasumura Y, Yuge M, Hosokawa S, Kawamitsu K, Kozuma K, Matsuo H, Nakashima E, Okada M, Wada A, Yokoya K, Iwade K, Kawabata K, Tanno H, Ako J, Fujita H, Izumiya Y, Kanno M, Nunohiro T, Ohmura H, Ueno T, Kakurina N, Jasinkevica I, Stukena I, Veze I, Eglite R, Teterovska D, Sime I, Strazdiene V, Venceviciene L, Gustiene O, Radzeviciene-Jurgute R, Kucinskiene A, Maskon O, Lee CY, Erng T, Gan HW, Mohamed Yusof AK, Ramanathan GL, Liew H, Lopez Alvarado A, Nevarez Ruiz LA, De los Rios Ibarra MO, 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Gimilio JF, Millan Nuñez-Cortes J, Lindholm C, Söderberg S, Suutari A, Berglund S, Mooe T, Kusiak D, Bandh S, Dahlén G, Olsson S, Witt N, Tydén P, Johansson P, Cizinsky S, Falck G, Pettersson SI, Rasmanis G, Östergren J, Moccetti T, Beer HJ, Eberli F, Krähenbühl S, Linka A, Ackermann D, Michel P, Yeh H, Tsai CF, Wu C, Hsia C, Juang J, Hsieh I, Lai W, Huang C, Hsieh Y, Sahin T, Duzenli M, Yigit Z, Demir M, Yilmaz MB, Muderrisoglu IH, Kirma C, Ercan E, Kayikcioglu L, Balbay Y, Lymar I, Kulynych O, Prokhorov O, Karpenko O, Kraіz I, Vakaliuk I, Stanislavchuk M, Korzh O, Rudyk I, Zhurba S, Svishchenko Y, Tseluyko V, Gyrina O, Reshotko D, Kopytsya M, Volkov V, Myshanych G, Rebrov B, Rishko M, Rudenko L, Shatylo V, Parkhomenko O, Yena L, Golovchenko O, Sorokina I, Malynovsky Y, Ivan P, Blagden M, Dear H, Mathew A, Lagocki S, Kondagunta V, Ahsan A, McKinnon C, Douglas F, Thom S, Fiore G, Caulfield M, Lynch M, Thomas H, Bain S, Hall A, McNally D, Fisher M, Keeling P, Al-Bahrani A, Lip G, Ellery 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Runquist L, Barnum O, Crater T, Fialkow J, Shah A, Thompson C, Wiseman A, Doyle T, Henderson D, Herzog W, Schnitzler R, Carr K, Davis M, Nagajothi N, Olsen S, Rogers W, Rubino J, Singh I, Tarleton G, Bhagwat R, Clardy D, Jardula M, Robinson J, Torres M, Vijay N, Farris N, Lillo J, Moriarty P, Recknor C, Berlacher P, Christensen T, Gabra N, Issa M, Janik M, Lawless A, Molter D, Stout E, Brezina B, Claxton E, Linsky R, Poock J, Remler R, Roseman H, Schramm E, Al-Joundi T, Amin J, Hitchcock J, Isserman S, Kirstein J, Rider J, Shalek M, Sherman H, Bernstein M, Chandra L, Hatharasinghe R, Ibrahim H, Iteld B, Linzmeyer K, Seaton B, Zeig S, Christofides E, Dunbar R, Griffin S, Kohli N, Koren M, Pharr W, Purdy D, Spencer R, Yeoman G, Banerjee S, Cheek HB, Engel E, Hamroff G, Huling R, Kozlowski L, Levin P, Makam S, Meengs M, Bhushan R, Erickson B, Herman L, Lo E, McDowell E, McGrew F, Miller M, Ord J, Webel R, Wilhoit G, Wise J, Yang E, Budoff M, Collins J, Dauber I, Dobkin L, Focil A, Gandy W, Pasquini J, Ramos M, Rodriguez D, Rosenson R, Sanford K, Schlau A, Snyder B, Stonesifer L, Tang A, De Souza J, Elam M III, French J, Guyton J, Hage Korban E, Kereiakes D, King M, Loh I, Navarro J, Simons R, Tobin T, Younis L, Aboufakher R, Baldari D, Ballantyne C, Broughton R, Eaton C, Johnston J, Simon W, Thomson S, Vora K, Youngman D, Alzohaili O, Auerbach E, Brown C, Burrough B, Chen Y, Gilpatrick M, Landzberg J, Mitchell C, Rice L, Rubenfire M, Sofley CW, Strobl D, Atassi K, Davila W, Diogo J, Fagan T, Joffe I, Krishna J, Osea E, Penny W, Rowe W, Shapiro M, Welker J, Benton R, Dobratz D, Fortuin F, Graham J, Henry B, Kusnick B, Lutskiy M, McRae A, Saway W, Scott J, Shah M, Weinberg B, Zarich S, Acheatel R, Case C, Earl J, Fernandez S, Giugliano G, Handelsman Y, Hermany P, Holder S, Kashyap M, Khan A, Lader E, Peniston J, Raoof T, Sacco J, Shore K, Spriggs D, Stringam S, Tahirkheli N, Delgado E, Derian W, Greenwald J, Harris M, Jackson R, Marhefka G, McElveen W, Mooss A, Morris P, Murray J, Pearlstein P, Raisinghani A, Rezkalla S, Sakhrani L, Schreibman D, Shaoulian E, Steinsapir J, Yataco A, De La Cruz A, Fredrick M, Goldenberg E, Lee D, McCullum K, McLellan B, Stephens L, Wilson S, Alfieri A, Mandviwala M, ORourke D, Samal A, Schmedtje J, Waxman F, Carhart R, Clements B, Dyke C, Ghali J, Gruberg L, Hack T, Jehle A, Pogue B, Schooley C, Shifrin G.
المساهمون: Sabatine, Marc S., Giugliano, Robert P., Keech, Anthony C., Honarpour, Narimon, Wiviott, Stephen D., Murphy, Sabina A., Kuder, Julia F., Wang, Huei, Liu, Thoma, Wasserman, Scott M., Sever, Peter S., Pedersen, Terje R., Fish MP, Abrahamsen, Te, Im, K, Kanevsky, E, Bonaca, Mp, Lira Pineda, A, Hanlon, K, Knusel, B, Somaratne, R, Kurtz, C, Scott, R, Accini Mendoza, Jl, Amerena, J, Badariene, J, Burgess, L, Ceska, R, Charng, Mj, Choi, D, Cobos, Jl, Dan, Ga, De Ferrari, Gm, Deedwania, Pc, Chopra, Vk, Erglis, A, Ezhov, Mv, Ferreira, J, Filipová, S, Gaciong, Za, Pasierski, T, Georgiev, Bg, Gonzalez-Galvez, G, Gouni-Berthold, I, Schäufele, T, Hirayama, A, Huber, K, Rammer, M, Kjaerulf Jensen, H, Wermuth, S, Jiang, L, Jukema, Jw, Kraydashenko, O, Leiter, La, Lewis, B, López-Miranda, J, Lorenzatti, Aj, Mach, F, McAdam, B, Nilsson, L, Olsson, Å, Rallidis, L, Rogelio, Gg, Kerr Saraiva, Jf, Scheen, A, Schiele, F, Connolly, D, Siu, Cw, Tay, L, Thorgeirsson, G, Tikkanen, Mj, Tokgozoglu, Sl, Toth, K, Viigimaa, M, Wan Ahmad, Wa, Hennekens, Ch, Andreotti, F, Baigent, C, Brown, Wv, Davis, Br, Newcomer, Jw, Wood, Sk, LaRosa, J, Ansell, B, Olsson, A, Lowe, C, Zahn, L, Awtry, E, Berger, C, Croce, K, Desai, A, Gelfand, E, Ho, C, Leeman, D, Link, M, Norden, A, Pande, A, Rost, N, Ruberg, F
مصطلحات موضوعية: Aged, antibodies, monoclonal, anticholesteremic agent, atherosclerosi, cardiovascular disease, cholesterol, ldl, double-blind method, drug therapy, combination, female, follow-up studie, human, hydroxymethylglutaryl-coa reductase inhibitor, hypercholesterolemia, incidence, least-squares analysi, male, middle aged, proprotein convertase 9, medicine (all)
Relation: info:eu-repo/semantics/altIdentifier/pmid/28304224; info:eu-repo/semantics/altIdentifier/wos/WOS:000400442300005; volume:376; issue:18; firstpage:1713; lastpage:1722; numberofpages:10; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11573/1150634; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85017341929
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