-
1دورية أكاديمية
المؤلفون: Ansari, M, Rainger, J, Hanson, IM, Williamson, KA, Sharkey, F, Harewood, L, Sandilands, A, Clayton-Smith, J, Dollfus, H, Bitoun, P, Meire, F, Fantes, J, Franco, B, Lorenz, B, Taylor, DS, Stewart, F, Willoughby, CE, McEntagart, M, Khaw, PT, Clericuzio, C, Van Maldergem, L, Williams, D, Newbury-Ecob, R, Traboulsi, EI, Silva, ED, Madlom, MM, Goudie, DR, Fleck, BW, Wieczorek, D, Kohlhase, J, McTrusty, AD, Gardiner, C, Yale, C, Moore, AT, Russell-Eggitt, I, Islam, L, Lees, M, Beales, PL, Tuft, SJ, Solano, JB, Splitt, M, Hertz, JM, Prescott, TE, Shears, DJ, Nischal, KK, Doco-Fenzy, M, Prieur, F, Temple, IK, Lachlan, KL, Damante, G, Morrison, DA, van Heyningen, V, FitzPatrick, DR
المصدر: PLoS One , 11 (4) , Article e0153757. (2016)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/1489804/7/Ansari%202016%20Genetic%20analysis%20of%20PAX6-Negative.PDFTest; https://discovery.ucl.ac.uk/id/eprint/1489804Test/
-
2دورية أكاديمية
المؤلفون: Ehlayel, MS, Karaca, E, Artac, H, Bayram, Y, Atik, MM, Eldomery, MK, Jolles, S, Flatø, B, Bertuch, AA, Hu, J, Walkiewicz, M, Yang, Y, Eng, CM, Boerwinkle, E, Gibbs, RA, Shearer, WT, Lyle, R, Orange, JS, Lupski, JR, Yesil, Gözde, Stray-Pedersen, A, Sorte, HS, Samarakoon, P, Gambin, T, Chinn, IK, Coban, Akdemir, Erichsen, HC, Gu, S, Hanson, IC, Zhang, VW, Wong, LJ, Forbes, LR, Yuan, B, Jhangiani, SN, Muzny, DM, Rødningen, OK, Sheng, Y, Nicholas, SK, Noroski, LM, Seeborg, FO, Davis, CM, Canter, DL, Mace, EM, Vece, TJ, Allen, CE, Abhyankar, HA, Boone, PM, Beck, CR, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, GE, Gedde-Dahl, T, Hjorth-Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, SF, Abrahamsen, TG, Øverland, T, Bechensteen, AG, Skogen, V, Osnes, LTN, Kulseth, MA, Prescott, TE, Rustad, CF, Heimdal, KR, Belmont, JW, Rider, NL, Chinen, J, Cao, TN, Smith, EA, Caldirola, MS, Bezrodnik, L, Lugo, Reyes, Espinosa, Rosales, Guerrero-Cursaru, ND, Pedroza, LA, Poli, CM, Franco, JL, Trujillo, Vargas, Aldave, Becerra, Wright, N, Issekutz, TB, Issekutz, AC, Abbott, J, Caldwell, JW, Bayer, DK, Chan, AY, Aiuti, A, Cancrini, C, Holmberg, E, West, C, Burstedt, M
المساهمون: 1042871
العلاقة: The Journal of allergy and clinical immunology; Stray-Pedersen A., Sorte H., Samarakoon P., Gambin T., Chinn I., Coban A., Erichsen H., Forbes L., Gu S., Yuan B., et al., "Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.", The Journal of allergy and clinical immunology, cilt.139, ss.232-245, 2017; av_85d8886c-4d6c-41ed-a53e-232103b19aae; vv_1032021; http://hdl.handle.net/20.500.12627/90987Test; https://doi.org/10.1016/j.jaci.2016.05.042Test; 139; 232; 245
الإتاحة: https://doi.org/20.500.12627/90987Test
https://doi.org/10.1016/j.jaci.2016.05.042Test
https://hdl.handle.net/20.500.12627/90987Test -
3دورية أكاديمية
المؤلفون: Stray Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde Dahl T, Hjorth Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski J.R., AIUTI , ALESSANDRO
المساهمون: Stray Pedersen, A, Sorte, H, Samarakoon, P, Gambin, T, Chinn, Ik, Coban Akdemir, Zh, Erichsen, Hc, Forbes, Lr, Gu, S, Yuan, B, Jhangiani, Sn, Muzny, Dm, Rødningen, Ok, Sheng, Y, Nicholas, Sk, Noroski, Lm, Seeborg, Fo, Davis, Cm, Canter, Dl, Mace, Em, Vece, Tj, Allen, Ce, Abhyankar, Ha, Boone, Pm, Beck, Cr, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, Ge, Gedde Dahl, T, Hjorth Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, Sf, Abrahamsen, Tg, Øverland, T, Bechensteen, Ag, Skogen, V, Osnes, Lt, Kulseth, Ma, Prescott, Te, Rustad, Cf, Heimdal, Kr, Belmont, Jw, Rider, Nl, Chinen, J, Cao, Tn, Smith, Ea, Caldirola, M, Bezrodnik, L, Lugo Reyes, So, Espinosa Rosales, Fj, Guerrero Cursaru, Nd, Pedroza, La, Poli, Cm, Franco, Jl, Trujillo Vargas, Cm, Aldave Becerra, Jc, Wright, N, Issekutz, Tb, Issekutz, Ac, Abbott, J, Caldwell, Jw, Bayer, Dk, Chan, Ay, Aiuti, Alessandro, Cancrini, C, Holmberg, E, West, C, Burstedt, M, Karaca, E, Yesil, G, Artac, H, Bayram, Y, Atik, Mm, Eldomery, Mk, Ehlayel, M, Jolles, S, Flatø, B, Bertuch, Aa, Hanson, Ic, Zhang, Vw, Wong, Lj, Hu, J, Walkiewicz, M, Yang, Y, Eng, Cm, Boerwinkle, E, Gibbs, Ra, Shearer, Wt, Lyle, R, Orange, J, Lupski, J. R.
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27577878; info:eu-repo/semantics/altIdentifier/wos/WOS:000393996800025; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/20.500.11768/14427Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84994399234
الإتاحة: https://doi.org/20.500.11768/14427Test
https://doi.org/10.1016/j.jaci.2016.05.042Test
https://hdl.handle.net/20.500.11768/14427Test -
4دورية أكاديمية
المؤلفون: Kury, S, van Woerden, Geeske, Besnard, T, Proietti Onori, Martina, Latypova, X, Towne, MC, Cho, M T, Prescott, TE, Ploeg, MA (Melissa), Sanders, S, Stessman, HAF, Pujol, A, Ben, D, Robak, LA, Bernstein, JA, Denomme-Pichon, AS, Lesca, G, Sellars, EA, Berg, J, Carre, W, Busk, OL, van Bon, BWM, Waugh, JL, Deardorff, M, Hoganson, GE, Bosanko, KB, Johnson, DS, Dabir, T, Holla, OL, Sarkar, A, Tveten, K, de Bellescize, J, Braathen, GJ, Terhal, PA, Grange, DK, van Haeringen, A, Lam, C, Mirzaa, G, Burton, J, Bhoj, EJ, Douglas, J, Santani, AB, Nesbitt, AI, Helbig, KL, Andrews, MV, Begtrup, A, Tang, S, van Gassen, K L I, Juusola, J, Foss, K
المصدر: Kury , S , van Woerden , G , Besnard , T , Proietti Onori , M , Latypova , X , Towne , MC , Cho , M T , Prescott , TE , Ploeg , MA , Sanders , S , Stessman , HAF , Pujol , A , Ben , D , Robak , LA , Bernstein , JA , Denomme-Pichon , AS , Lesca , G , Sellars , EA , Berg , J , Carre , W , Busk , OL , van Bon , BWM , Waugh , JL , Deardorff , M ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.10.003Test
https://pure.eur.nl/en/publications/d16fc348-b361-4fba-8f5d-a173e564f408Test
http://hdl.handle.net/1765/102880Test -
5دورية أكاديمية
المؤلفون: Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AG, Skogen V, Osnes LT, Kulseth MA, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MS, Bezrodnik L, Lugo Reyes SO, Espinosa Rosales FJ, Guerrero-Cursaru ND, Pedroza LA, Poli CM, Franco JL, Trujillo Vargas CM, Aldave Becerra JC, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MM, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, Hanson IC, Zhang VW, Wong LJ, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR
المساهمون: Stray-Pedersen, A, Sorte, H, Samarakoon, P, Gambin, T, Chinn, I, Coban Akdemir, Z, Erichsen, H, Forbes, L, Gu, S, Yuan, B, Jhangiani, S, Muzny, D, Rødningen, O, Sheng, Y, Nicholas, S, Noroski, L, Seeborg, F, Davis, C, Canter, D, Mace, E, Vece, T, Allen, C, Abhyankar, H, Boone, P, Beck, C, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, G, Gedde-Dahl, T, Hjorth-Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, S, Abrahamsen, T, Øverland, T, Bechensteen, A, Skogen, V, Osnes, L, Kulseth, M, Prescott, T, Rustad, C, Heimdal, K, Belmont, J, Rider, N, Chinen, J, Cao, T, Smith, E, Caldirola, M, Bezrodnik, L, Lugo Reyes, S, Espinosa Rosales, F, Guerrero-Cursaru, N, Pedroza, L, Poli, C, Franco, J, Trujillo Vargas, C, Aldave Becerra, J, Wright, N, Issekutz, T, Issekutz, A, Abbott, J, Caldwell, J, Bayer, D, Chan, A, Aiuti, A, Cancrini, C, Holmberg, E, West, C, Burstedt, M, Karaca, E, Yesil, G, Artac, H, Bayram, Y, Atik, M, Eldomery, M, Ehlayel, M, Jolles, S, Flatø, B, Bertuch, A, Hanson, I, Zhang, V, Wong, L, Hu, J, Walkiewicz, M, Yang, Y, Eng, C, Boerwinkle, E, Gibbs, R, Shearer, W, Lyle, R, Orange, J, Lupski, J
مصطلحات موضوعية: Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/000393996800025; journal:JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY; http://hdl.handle.net/2108/295263Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84994399234
-
6دورية أكاديمية
المؤلفون: Ansari M, Rainger J, Hanson IM, Williamson KA, Sharkey F, Harewood L, Sandilands A, Clayton-Smith J, Dollfus H, Bitoun P, Meire F, Fantes J, Franco B, Lorenz B, Taylor DS, Stewart F, Willoughby CE, McEntagart M, Khaw PT, Clericuzio C, Van Maldergem L, Williams D, Newbury-Ecob R, Traboulsi EI, Silva ED, Madlom MM, Goudie DR, Fleck BW, Wieczorek D, Kohlhase J, McTrusty AD, Gardiner C, Yale C, Moore AT, Russell-Eggitt I, Islam L, Lees M, Beales PL, Tuft SJ, Solano JB, Splitt M, Hertz JM, Prescott TE, Shears DJ, Nischal KK, Doco-Fenzy M, Prieur F, Temple IK, Lachlan KL, Damante G, Morrison DA, van Heyningen V, FitzPatrick DR
المصدر: PLoS ONE
وصف الملف: application/PDF
-
7
المؤلفون: Mohammad K. Eldomery, Olaug K. Rødningen, Cecilia Poli, Debra Canter, Berit Flatø, Ketil Heimdal, Nicholas L. Rider, Silje F. Jørgensen, Hasibe Artac, Hans Christian Erichsen, Francisco Javier Espinosa Rosales, Ivan K. Chinn, Alison A. Bertuch, Bo Yuan, Jordan S. Orange, Emily M. Mace, Wojciech Wiszniewski, Robert Lyle, Shalini N. Jhangiani, Tobias Gedde-Dahl, Carla M. Davis, Carl E. Allen, I. Celine Hanson, Magnus K. O. Burstedt, Thomas B. Issekutz, Mari Ann Kulseth, Yavuz Bayram, Eric A. Smith, Tram N. Cao, Stephen Jolles, Andrew C. Issekutz, Pubudu S. Samarakoon, Alice Y. Chan, Gozde Yesil, Eva Holmberg, Børre Fevang, Diana K. Bayer, John W. Belmont, Asbjørg Stray-Pedersen, Timothy J. Vece, Magdalena Walkiewicz, James R. Lupski, Ying Sheng, Trine Prescott, Liv T. N. Osnes, Cecilie F. Rustad, Nina Denisse Guerrero-Cursaru, Juan Carlos Aldave Becerra, Victor Wei Zhang, Philip M. Boone, Mohammad S. Ehlayel, Jason W. Caldwell, Tore G. Abrahamsen, José Luis Franco, Harshal Abhyankar, Henrik Hjorth-Hansen, Liliana Bezrodnik, Vegard Skogen, Nicola A.M. Wright, Lisa R. Forbes, Anne Grete Bechensteen, Christine R. Beck, Saul Oswaldo Lugo Reyes, Lee-Jun C. Wong, Shen Gu, Sarah K. Nicholas, Christina E. West, Filiz O. Seeborg, Mehmed M. Atik, Eric Boerwinkle, Luis A. Pedroza, Caterina Cancrini, Hanne Sørmo Sorte, Yaping Yang, Christine M. Eng, Richard A. Gibbs, Lenora M. Noroski, Alessandro Aiuti, Ender Karaca, Torstein Øverland, Claudia Milena Trujillo Vargas, Jordan K. Abbott, Geir E. Tjønnfjord, William T. Shearer, Javier Chinen, Ingunn Dybedal, Tomasz Gambin, Donna M. Muzny, Pål Aukrust, Ingvild Nordøy, María Soledad Caldirola, Jianhong Hu, Zeynep Coban Akdemir
المساهمون: YEŞİL, Gözde, Stray Pedersen, A, Sorte, H, Samarakoon, P, Gambin, T, Chinn, Ik, Coban Akdemir, Zh, Erichsen, Hc, Forbes, Lr, Gu, S, Yuan, B, Jhangiani, Sn, Muzny, Dm, Rødningen, Ok, Sheng, Y, Nicholas, Sk, Noroski, Lm, Seeborg, Fo, Davis, Cm, Canter, Dl, Mace, Em, Vece, Tj, Allen, Ce, Abhyankar, Ha, Boone, Pm, Beck, Cr, Wiszniewski, W, Fevang, B, Aukrust, P, Tjønnfjord, Ge, Gedde Dahl, T, Hjorth Hansen, H, Dybedal, I, Nordøy, I, Jørgensen, Sf, Abrahamsen, Tg, Øverland, T, Bechensteen, Ag, Skogen, V, Osnes, Lt, Kulseth, Ma, Prescott, Te, Rustad, Cf, Heimdal, Kr, Belmont, Jw, Rider, Nl, Chinen, J, Cao, Tn, Smith, Ea, Caldirola, M, Bezrodnik, L, Lugo Reyes, So, Espinosa Rosales, Fj, Guerrero Cursaru, Nd, Pedroza, La, Poli, Cm, Franco, Jl, Trujillo Vargas, Cm, Aldave Becerra, Jc, Wright, N, Issekutz, Tb, Issekutz, Ac, Abbott, J, Caldwell, Jw, Bayer, Dk, Chan, Ay, Aiuti, Alessandro, Cancrini, C, Holmberg, E, West, C, Burstedt, M, Karaca, E, Yesil, G, Artac, H, Bayram, Y, Atik, Mm, Eldomery, Mk, Ehlayel, M, Jolles, S, Flatø, B, Bertuch, Aa, Hanson, Ic, Zhang, Vw, Wong, Lj, Hu, J, Walkiewicz, M, Yang, Y, Eng, Cm, Boerwinkle, E, Gibbs, Ra, Shearer, Wt, Lyle, R, Orange, J, Lupski, J. R., Selçuk Üniversitesi
المصدر: The Journal of allergy and clinical immunology, vol 139, iss 1
مصطلحات موضوعية: 0301 basic medicine, Male, Allergy, Genomic approaches delineate heterogeneous Mendelian disorders-, JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.139, ss.232-245, 2017 [Stray-Pedersen A., Sorte H. S. , Samarakoon P., Gambin T., Chinn I. K. , Akdemir Z. H. C. , Erichsen H. C. , Forbes L. R. , Gu S., Yuan B., et al., -Primary immunodeficiency diseases], 0302 clinical medicine, OMIM : Online Mendelian Inheritance in Man, Immunology and Allergy, 2.1 Biological and endogenous factors, Copy-number variation, Primary immunodeficiency disease, whole-exome sequencing, Aetiology, Child, Exome sequencing, Genetics, screening and diagnosis, food and beverages, High-Throughput Nucleotide Sequencing, Genomics, Middle Aged, Settore MED/38, Detection, 030220 oncology & carcinogenesis, Child, Preschool, Medical genetics, Female, Adult, medicine.medical_specialty, Adolescent, DNA Copy Number Variations, Immunology, Biology, 03 medical and health sciences, Young Adult, Rare Diseases, Clinical Research, medicine, Humans, Genetic Testing, Preschool, Aged, Severe combined immunodeficiency, Genetic heterogeneity, Common variable immunodeficiency, Prevention, fungi, Human Genome, Immunologic Deficiency Syndromes, Infant, medicine.disease, 4.1 Discovery and preclinical testing of markers and technologies, 030104 developmental biology, Good Health and Well Being, Primary immunodeficiency, copy number variants
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2abf0338cd9012533e4851a811cd28aaTest
https://escholarship.org/uc/item/8188960dTest