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1
المؤلفون: Oskarsdottir, Solveig, 1953, Boot, E., Crowley, T. B., Loo, J. C. Y., Arganbright, J. M., Armando, M., Baylis, A. L., Breetvelt, E. J., Castelein, R. M., Chadehumbe, M., Cielo, C. M., de Reuver, S., Eliez, S., Fiksinski, A. M., Forbes, B. J., Gallagher, E., Hopkins, S. E., Jackson, O. A., Levitz-Katz, L., Klingberg, G., Lambert, M. P., Marino, B., Mascarenhas, M. R., Moldenhauer, J., Moss, E. M., Nowakowska, B. A., Orchanian-Cheff, A., Putotto, C., Repetto, G. M., Schindewolf, E., Schneider, M., Solot, C. B., Sullivan, K. E., Swillen, A., Unolt, M., Van Batavia, J. P., Vingerhoets, C., Vorstman, J., Bassett, A. S., McDonald-McGinn, D. M.
المصدر: Genetics in Medicine. 25(3)
مصطلحات موضوعية: Pediatrics, Pediatrik, 22q11, 2 deletion syndrome, Children, Clinical practice guidelines, Review, Treatment, bernard-soulier-syndrome, cardio-facial-syndrome, partial, digeorge-syndrome, obstructive sleep-apnea, live viral vaccines, low-copy repeats, psychiatric-disorders, velocardiofacial syndrome, ocular findings, hearing-loss, Genetics & Heredity
الوصول الحر: https://gup.ub.gu.se/publication/331591Test
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2دورية أكاديمية
المؤلفون: Campbell I. M., Sheppard S. E., Crowley T. B., McGinn D. E., Bailey A., McGinn M. J., Unolt M., Homans J. F., Chen E. Y., Salmons H. I., Gaynor J. W., Goldmuntz E., Jackson O. A., Katz L. E., Mascarenhas M. R., Deeney V. F. X., Castelein R. M., Zur K. B., Elden L., Kallish S., Kolon T. F., Hopkins S. E., Chadehumbe M. A., Lambert M. P., Forbes B. J., Moldenhauer J. S., Schindewolf E. M., Solot C. B., Moss E. M., Gur R. E., Sullivan K. E., Emanuel B. S., Zackai E. H., McDonald-McGinn D. M.
المساهمون: Campbell, I. M., Sheppard, S. E., Crowley, T. B., Mcginn, D. E., Bailey, A., Mcginn, M. J., Unolt, M., Homans, J. F., Chen, E. Y., Salmons, H. I., Gaynor, J. W., Goldmuntz, E., Jackson, O. A., Katz, L. E., Mascarenhas, M. R., Deeney, V. F. X., Castelein, R. M., Zur, K. B., Elden, L., Kallish, S., Kolon, T. F., Hopkins, S. E., Chadehumbe, M. A., Lambert, M. P., Forbes, B. J., Moldenhauer, J. S., Schindewolf, E. M., Solot, C. B., Moss, E. M., Gur, R. E., Sullivan, K. E., Emanuel, B. S., Zackai, E. H., McDonald-McGinn, D. M.
مصطلحات موضوعية: 22q11.2, DiGeorge, genomic disorder, multidisciplinary, syndrome, Adolescent, Adult, Child, Preschool, Chromosome Deletion, Chromosomes, Human, Pair 22, Comorbidity, DiGeorge Syndrome, Female, Gastrointestinal Disease, Heart Defects, Congenital, Longitudinal Studie, Male, Mortality, Philadelphia, Transition to Adult Care
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30380191; info:eu-repo/semantics/altIdentifier/wos/WOS:000449718500005; volume:176; issue:10; firstpage:2058; lastpage:2069; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11573/1344400Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85055795508
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3دورية أكاديمية
المؤلفون: Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W., Schneider, E., De Vivo, D. C., Finkel, R. S., Bradley WG, Kaufmann P, Dickson PI, Reingold SC, Davis CS, Arredondo K, Castro D, Cowie M, Farrow-Gillespie A, Hebert A, Kauk M, Miller N, Nelson L, Spain T Jr, Cappell J, Constantinescu A, Cruz R, Dastgir J, Dunaway S, Engelstad K, Khandji AG, Kramer S, Marra J, Popolizio M, Salazar R, Weimer LH, Aziz-Zaman S, LaMarca N, Ghosh P, Al-Ghamdi F, Liew W, Graham R, Berde C, Sethna N, Koka A, Wang L, Laine R, Souris M, Ordonez G, Harrington T, Szelag H, Pasternak A, Mirek E, Quigley J, Berry D, Civitello M, Endsley JD, Eden C, Leon W, O'Reardon K, Sigurdardottir L, Johnson C, Turner J, Vega M, Weber-Guzman F, Zinn M, Tesi Rocha AC, Watson K, D'Souza G, Ramamurthi RJ, Gee R, Kitsuwa-Lowe J, Hagerman K, Crasta S, Welsh L, Paulose S, McFall D, Perez J, Patnaik S, Sanjanwala B, Sakamuri S, Proud C, Purse BP, Duong TT, Sampson J, Tennekoon G, Brandsema J, Glanzman A, Flickinger J, Toms M, Adang L, Stanford D, Mayer O, Zigmont J, Chadehumbe M, Kichula E, Finanger E, Russman B, Roberts C, Frank A, Benjamin D, Zilke K, Golumbek PT, Zaidman CM, Anand P, Gadeken R, Siener C, Epstein L, Krueger J, Goldman S, Krosschell K, Blomgren C, Choi HW, Kurz J, Parsons J, Janas J, Yang M, Ballard A, Carry T, Shea S, Bielsky A, Booker K, Camuto A, Lord-Halvorson S, Gibbons M, Zimmerman C, Allen V, Fuhr P, Kelley C, Johnson H, Tran V, VanderVeen G, Fowler E, Parziale N, Rao L, Skura C, Shu F, Oskoui M, Zielinski D, Poulin C, Ingelmo PM, Desilets ST, Dinunzio P, Rivera G, Srour M, Arpin S, Goobie S, Gibson P, Scholtes C, McDonald W, Zapata E, Nguyen CE, Servais L, Gargaun E, Le Moing AG, Gidaro T, Vialle R, Guye ML, Lilien C, Olliver G, Gilabert S, Borell S, Wider S, Stein S, Vogt S, Krüger M, Pechmann A, Rippberger B, Eckenweiler M, Schara U, Koelbel H, Andres B, Rupprich K, Gangfuss A, Jachertz P, Della Marina A, Sponemann N, Pane M, Palermo C, Piastra M, Fanelli L, De Sanctis R, Genovese O, Antonaci L, Pera MC, Lamendola P, Messina S, Vita G, Di Bella V, Sframeli M, La Rosa M, Barcellona C, Distefano MG, Cavallaro F, Versaci A, De Luca F, Nacimento Osorio A, Tizzano E, Ortez Gonzalez CI, Ortigoza Escobar JD, Colomer Oferil J, Medina Cantillo J, Rotger AF, Vigo Morancho M, Eldblom J, Darin N, Kroksmark AK, Lindstedt A, Michael E, Kimber E, Wahlgren L, Chan SH, Chim S, Chiu J, Ho ACC, Ip JKJ, Lam WWM, Ng MC, Wan C, Wong VCN, Yue Y, Arakawa R, Yamauchi A, Nagata S, Ito Y, Nakatsukasa H, Takeshita A, Hirasawa K, Ikai T, Eto K, Otamni Y, Takeshima Y, Fukuda N, Tanaka Y, Shimomura H, Lee T, Shibano T, Tachikawa T, Chae JH, Lim BC, Shin HI, Kim SY, Choi SA, Son WS, Jo H, Chun SM, Kim H.
المساهمون: Mercuri, E., Darras, B. T., Chiriboga, C. A., Day, J. W., Campbell, C., Connolly, A. M., Iannaccone, S. T., Kirschner, J., Kuntz, N. L., Saito, K., Shieh, P. B., Tulinius, M., Mazzone, E. S., Montes, J., Bishop, K. M., Yang, Q., Foster, R., Gheuens, S., Bennett, C. F., Farwell, W., Schneider, E., De Vivo, D. C., Finkel, R. S., Bradley, Wg, Kaufmann, P, Dickson, Pi, Reingold, Sc, Davis, C, Arredondo, K, Castro, D, Cowie, M, Farrow-Gillespie, A, Hebert, A, Kauk, M, Miller, N, Nelson, L, Spain, T Jr, Cappell, J, Constantinescu, A, Cruz, R, Dastgir, J, Dunaway, S, Engelstad, K, Khandji, Ag, Kramer, S, Marra, J, Popolizio, M, Salazar, R, Weimer, Lh, Aziz-Zaman, S, Lamarca, N, Ghosh, P, Al-Ghamdi, F, Liew, W, Graham, R, Berde, C, Sethna, N, Koka, A, Wang, L, Laine, R, Souris, M, Ordonez, G, Harrington, T, Szelag, H, Pasternak, A, Mirek, E, Quigley, J, Berry, D, Civitello, M, Endsley, Jd, Eden, C, Leon, W, O'Reardon, K, Sigurdardottir, L, Johnson, C, Turner, J, Vega, M, Weber-Guzman, F, Zinn, M, Tesi Rocha, Ac, Watson, K, D'Souza, G, Ramamurthi, Rj, Gee, R, Kitsuwa-Lowe, J, Hagerman, K, Crasta, S, Welsh, L, Paulose, S, Mcfall, D, Perez, J, Patnaik, S, Sanjanwala, B, Sakamuri, S, Proud, C, Purse, Bp, Duong, Tt, Sampson, J, Tennekoon, G, Brandsema, J
مصطلحات موضوعية: Age of Onset, Child, Preschool, Double-Blind Method, Female, Human, Infant, Injections, Spinal, Least-Squares Analysi, Male, Motor Skill, Oligonucleotide, Oligonucleotides, Antisense, Spinal Muscular Atrophies of Childhood, Medicine (all)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29443664; info:eu-repo/semantics/altIdentifier/wos/WOS:000425000000008; volume:378; issue:7; firstpage:625; lastpage:635; numberofpages:11; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11570/3127475Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042194277; http://www.nejm.org/medical-indexTest
الإتاحة: https://doi.org/10.1056/NEJMoa1710504Test
http://hdl.handle.net/11570/3127475Test
http://www.nejm.org/medical-indexTest -
4دورية أكاديمية
المؤلفون: Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C., Bradley, W. G., Schroth, M. K., Bodensteriner, J. B., Davis, C. S., Shell, R., Hen, J., Austin, E. D., Aziz-Zaman, S., Cappell, J., Constantinescu, A., Cruz, R., Dastgir, J., Dunaway, S., Engelstad, K., Gormley, M., Holuba La Marca, N., Khandji, A., Kramer, S., Marra, J., Ortiz-Miller, C., Popolizio, M., Salazar, R., Sanabria, L., Weimer, L., Anand, P., Gadeken, R., Golumbek, P. T., Siener, C., Zaidman, C. M., Al-Ghamdi, F., Berde, C., Ghosh, P., Graham, R., Harrington, T., Koka, A., Laine, R., Liew, W., Mirek, E., Ordonez, G., Pasternak, A., Quigley, J., Sethna, N., Souris, M., Szelag, H., Wand, L., Day, J. W., D'Souza, G., Duong, T. T., Gee, R., Kitsuwa-Lowe, J., McFall, D., Patnaik, S., Paulose, S., Perez, J., Proud, C., Purse, B., Ramamurthi, R. J., Sakamuri, S., Sampson, J., Sanjanwala, B., Tesi Rocha, A. C., Watson, K., Welsh, L., Pena, L. D. M., Case, L., Coates, J., DeArmey, S., Homi, M. M., Milleson, C., Nelson, N., Ross, A., Smith, E., Taicher, B., Wootton, J., Finanger, E., Benjamin, D., Frank, A., Roberts, C., Russman, B., Zilke, K., Berry, D., Civitello, M., Cook, D., Endsley, J. D., Johnson, C., Kasper, M., Leon, W., Lim, A., O'Reardon, K., Sigurdardottir, L. Y., Turner, J., Weber-Guzman, F., Zinn, M., Iannaccone, S. T., Castro, D., Cowie, M., Farrow-Gillespie, A., Herbert, A., Kauk, M., McElroy, D., Miller, N., Nelson, L., Smith, L., Spain, T., Trest, S., Johnson, N., Butterfield, R., DiBella, D., Mayne, K., Newcomb, T. M., Rausch, N., Blomgren, C., Choi, H. W., Epstein, L., Goldman, S., Krosschell, K., Krueger, J., Kurz, J., Rao, V., Parsons, J., Allen, V., Bielsky, A., Booker, K., Camuto, A., Carry, T., Fuhr, P., Gibbons, M., Janas, J., Johnson, H., Kelly, C., Lord-Halvorson, L. S., Nicolarsen, S., Shea, S., Tran, V., VanderVeen, G., Yang, M., Zimmerman, C., Shieh, P., Parziale, N., Rao, L., Said, J. W., Shu, F., Skura, C., Staudt, L., Tennekoon, G., Adang, L., Brandsema, J., Chadehumbe, M., Flickinger, J., Kichula, E., Stanford, D., Toms, M., Zigmont, J., Oskoui, M., Arpin, S., Dinunzio, P., Ingelmo, P. M., Poulin, C., Rivera, G., Sabapathy, C., Srour, M., Turgeon-Desilet, S., Zielinski, D., Selby, K., King, C., Lee, J., Michoulas, A., Roland, E., Vajsar, J., Chau, V., Dowling, J., Haldenby, R., Miki, M., So, S., Pascual Pascual, S. I., Martinez Bermejo, A., Epinosa Garcia, S., Garcia Guixot, S., Martinez Moreno, M. M., del Pilar Tirado Requero, M., del Mar Garcia Romero, M., Aguilar, C., Munell Casadesus, F., Gomez Garcia de la Banda, M. B., Gallardo, M., Gili, G., Alavarez Molinero, M., de Los Angeles Tormos Munoz, M., Palacios, N. J., Planas Pascual, B., del Mar Melendez Plumed, M., Rucian, A. F., Toro Tamargo, E., Gratacos Vinola, M., Borell, S., Eckenweiler, M., Krüger, M., Pechmann, A., Rippberger, B., Stein, S., Vogt, S., Wider, S., Schara, U., Andres, B., Della Marina, A., Ganfuss, A., Jachertz, P., Koelbel, H., Rupprich, K., Schroers, E. S., Sponemann, N., Bruno, C., Fiorillo, C., Garaventa, A., Lanteri, P., Lanzillotta, V., Manzitti, C., Pedermonte, M., Tacchetti, P., Trucco, F., Zuffi, A., De Sanctis, R., Fanelli, L., Luigetti, M., Palermo, C., Pane, M., Piastra, M., Sivo, S., Gargaun, E., Gidaro, T., Gilabert, S., Léger, P. L., Le Moing, A. G., Lilien, C., Mayer, M., Ollievier, Q., Rambaud, J., Taytard, J., Vialle, R., Voit, T., Muntoni, F., D'Argenzio, L., Lister, PH., Manzur, A., Pisco Domingos, J., Ramsey, D., Ricotti, V., Schottlaender, L., Scoto, M., Scuplak, S. M., Selby, V., Straub, V., Baily, S., Bertoli, M., Mayhew, A. G., Lofra, R. M., Murphy, A., Wood, C., Darin, N., Eldblom, J., Kimber, E., Kroksmark, A. K., Lindstedt, A., Michael, E., Sofou, K., Deconinck, N., Christiaens, A., Coppens, S., DeCock, K., De Vos voor, E., Dorban, F., Gilbert, G., Rooze, S., Tahon, V., Van Coster, R., Van Der Looven, R., Vanlander, A., Vens, D., Verhelst, H., Wenderickx, B., Wittevrongel, S., Farrar, M., Berthon-Jones, N., Doumit, M. A., Herbert, K. J., Kandula, T., Morrison, M., O'Brien, J., Richardson, S., Ferreira Sampaio, H. A., Teoh, H. L., Ryan, M., Carroll, K. M., De Valle, K. L., Villano, D., Woodcock, I., Yiu, E. M., Ardicli, D., Gunbey, C., Haliloglu, V. G., Karaduman, A. A., Konuskan, B., Yildiz Sarikaya, F. G., Serdaroglu, E., Tanyildiz, M., Temucin, C. M., Yildirim, M., Yilmaz, O. T., Arakawa, R., Chiba, Y., Eto, K., Hirasawa, K., Ikai, T., Ito, S., Ito, Y., Kaburagi, Y., Kaneko, H., Matsumaru, S., Matsushima, N., Mizuochi, K., Nagata, S., Nakatsukasa, H., Nishikawa, A., Otani, Y., Sato, T., Shichiji, M., Sugimoto, K., Takeshita, A., Yanagishita, T., Yamauchi, A., Takeshima, Y., Fujino, T., Fukuda, N., Lee, T., Oriyama, K., Shibano, T., Shimomura, H., Tachikawa, T., Tanaka, Y., Taniguchi, N., Chae, J. H., Choi, S. A., Chun, S. M., Jo, H., Kim, H., Kim, S. Y., Lee, J. S., Lim, B. C., Shin, H. I., Son, W. S., Chan, S., Chung, A. C., Yan, C. S., Stella, C., Joseph, C. K. W., Ng, C. S., Alvin, H. C. C., Janice, I. J. K., Wendy, L. W. M., Chui-San, M. N., Ki, N. Y., Shun, T. N., Connie, W. Y., Virginia, W. C., Yvonne, Y., Jong, Y. J., Chen, T. H., Chou, P. C., Chou, Y. H., Chung, H. W., Hsu, J. H., Ju, Y. H., Liang, W. C., Shih, H. H., Wang, H. Y., Wu, Y. C., Zeng, Y. S.
المساهمون: Finkel, Richard S., Mercuri, Eugenio, Darras, Basil T., Connolly, Anne M., Kuntz, Nancy L., Kirschner, Janbernd, Chiriboga, Claudia A., Saito, Kayoko, Servais, Laurent, Tizzano, Eduardo, Topaloglu, Haluk, Tulinius, Már, Montes, Jacqueline, Glanzman, Allan M., Bishop, Kathie, Zhong, Z. John, Gheuens, Sarah, Bennett, C. Frank, Schneider, Eugene, Farwell, Wildon, De Vivo, Darryl C., Bradley, W. G., Schroth, M. K., Bodensteriner, J. B., Davis, C. S., Shell, R., Hen, J., Austin, E. D., Aziz-Zaman, S., Cappell, J., Constantinescu, A., Cruz, R., Dastgir, J., Dunaway, S., Engelstad, K., Gormley, M., Holuba La Marca, N., Khandji, A., Kramer, S., Marra, J., Ortiz-Miller, C., Popolizio, M., Salazar, R., Sanabria, L., Weimer, L., Anand, P., Gadeken, R., Golumbek, P. T., Siener, C., Zaidman, C. M., Al-Ghamdi, F., Berde, C., Ghosh, P., Graham, R., Harrington, T., Koka, A., Laine, R., Liew, W., Mirek, E., Ordonez, G., Pasternak, A., Quigley, J., Sethna, N., Souris, M., Szelag, H., Wand, L., Day, J. W., D'Souza, G., Duong, T. T., Gee, R., Kitsuwa-Lowe, J., Mcfall, D., Patnaik, S., Paulose, S., Perez, J., Proud, C., Purse, B., Ramamurthi, R. J., Sakamuri, S., Sampson, J., Sanjanwala, B., Tesi Rocha, A. C., Watson, K., Welsh, L., Pena, L. D. M., Case, L., Coates, J., Dearmey, S., Homi, M. M., Milleson, C., Nelson, N., Ross, A., Smith, E., Taicher, B., Wootton, J., Finanger, E., Benjamin, D., Frank, A., Roberts, C., Russman, B.
مصطلحات موضوعية: Medicine (all)
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000414239100005; volume:377; firstpage:1723; lastpage:1732; numberofpages:10; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11567/943655Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85032714516
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5دورية أكاديمية
المؤلفون: Kim, H., Laor, T., Dardzinski, B., Chadehumbe, M., Wong, B.L.
المصدر: Neuromuscular Disorders ; volume 19, issue 8-9, page 628-629 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2009.06.264Test
https://api.elsevier.com/content/article/PII:S0960896609004210?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896609004210?httpAccept=text/plainTest -
6دورية أكاديمية
المؤلفون: Chadehumbe, M., Kalra, M., Inge, T., Knue, M., Wong, B.
المصدر: Neuromuscular Disorders ; volume 17, issue 9-10, page 778 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2007.06.061Test
https://api.elsevier.com/content/article/PII:S0960896607002489?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896607002489?httpAccept=text/plainTest -
7دورية أكاديمية
المؤلفون: Chadehumbe, M., Ednick, M., Wong, B., Knue, M., Inge, T., Kalra, M.
المصدر: Neuromuscular Disorders ; volume 17, issue 9-10, page 778 ; ISSN 0960-8966
مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health
الإتاحة: https://doi.org/10.1016/j.nmd.2007.06.062Test
https://api.elsevier.com/content/article/PII:S0960896607002490?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896607002490?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Chadehumbe, M, Dinopoulos, A, Wong, B
المصدر: Neuropediatrics ; volume 37, issue S 1 ; ISSN 0174-304X 1439-1899