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1Academic Journal
المؤلفون: Maas, RR, Iwanicka-Pronicka, K, Ucar, SK, Alhaddad, B, AlSayed, M, Al-Owain, MA, Al-Zaidan, HI, Balasubramaniam, S, Baric, I, Bubshait, DK, Burlina, A, Christodoulou, J, Chung, WK, Colombo, R, Darin, N, Freisinger, P, Silva, MTG, Grunewald, S, Haack, TB, van Hasselt, PM, Hikmat, O, Horster, F, Isohanni, P, Ramzan, K, Kovacs-Nagy, R, Krumina, Z, Martin-Hernandez, E, Mayr, JA, McClean, P, De Meirleir, L, Naess, K, Ngu, LH, Pajdowska, M, Rahman, S, Riordan, G, Riley, L, Roeben, B, Rutsch, F, Santer, R, Schiff, M, Seders, M, Sequeira, S, Sperl, W, Staufner, C, Synofzik, M, Taylor, RW, Trubicka, J, Tsiakas, K, Unal, O, Wassmer, E, Wedatilake, Y, Wolff, T, Prokisch, H, Morava, E, Pronicka, E, Wevers, RA, de Brouwer, AP, Wortmann, SB
المصدر: Annals of neurology. 82(6):1004-1015
مصطلحات موضوعية: Medicin och hälsovetenskap
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2Academic Journal
المؤلفون: Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Jackson, Adam, Shahani, D, Saneto, RP, Zampino, G, Leoni, C, Agolini, E, Novelli, A, Haack, BUBTB, Heinritz, W, Matzker, E, Alhaddad, B, Abou Jamra, R, Bartolomaeus, T, AlHamdan, S, Carapito, R, Isidor, B, Bahram, S, Ritter, A, Izumi, K, Shakked, B, Barel, O, Ben Zeev, B, Begtrup, A, Carere, DA, Mullegama, SV, Palculict, TB, Calame, DG, Schwan, K, Aycinena, ARP, Traberg, R, Douzgou, S, Pirt, H, Banka, S, Chao, HT
المصدر: Genomics England Research Consortium , Genetti , CA , Pinelli , M , Brunetti-Pierri , N , Garza-Flores , A , Jackson , A , Shahani , D , Saneto , RP , Zampino , G , Leoni , C , Agolini , E , Novelli , A , Haack , BUBTB , Heinritz , W , Matzker , E , Alhaddad , B , Abou Jamra , R , Bartolomaeus , T , AlHamdan , S , Carapito , R , Isidor , B , Bahram , S , Ritter , A , Izumi , K , Shakked ....
الاتاحة: https://research.manchester.ac.uk/en/publications/5bb96e6d-bf49-4bef-9208-796742127be1
https://doi.org/10.1016/j.ajhg.2023.02.010
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:000957203200001&DestLinkType=FullRecord&DestApp=WOS
http://www.scopus.com/inward/record.url?scp=85149177928&partnerID=8YFLogxK
https://www.mendeley.com/catalogue/4c86c496-c7b9-311f-b81c-cd3cf715263b/ -
3Academic Journal
المؤلفون: Anggraini, A. (Anggraini), Arifin, A. A. (Andi), Alhaddad, B. (Bujuna), Puspita, R. (Rita)
المصدر: Jurnal Basicedu
مصطلحات موضوعية: Perilaku Agresif Anak, Ibu Yang Bekerja dan Tidak Bekerja, Indonesia
وصف الملف: application/pdf
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4Academic Journal
المؤلفون: Riedhammer, K.M., Nguyen, T.T.M., Koşukcu, C., Calzada-Wack, J., Li, Yong, Batzir, N.A., Saygılı, S., Wimmers, V., Kim, G.J., Chrysanthou, M., Bakey, Z., Sofrin-Drucker, E., Kraiger, M., Sanz-Moreno, A., Amarie, O.V., Rathkolb, B., Klein-Rodewald, T., Garrett, L., Hölter, S.M., Seisenberger, C., Haug, S., Schlosser, P., Marschall, S., Wurst, W., Fuchs, H., Gailus-Durner, V., Wuttke, M., Hrabe de Angelis, M., Ćomić, J., Akgün Doğan, Ö., Özlük, Y., Taşdemir, M., Ağbaş, A., Canpolat, N., Orenstein, N., Çalışkan, S., Weber, R.G., Bergmann, C., Jeanpierre, C., Saunier, S., Lim, T.Y., Hildebrandt, F., Alhaddad, B., Basel-Salmon, L., Borovitz, Y., Wu, K.M., Antony, D., Matschkal, J., Schaaf, C.W., Renders, L., Schmaderer, C., Rogg, M., Schell, C., Meitinger, T., Heemann, U., Köttgen, A., Arnold, S.J., Ozaltin, F., Schmidts, M., Hoefele, J.
المصدر: Kidney International, 105, 4, pp. 844-864
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5Academic Journal
المؤلفون: Richard, EM, Bakhtiari, S, Marsh, APL, Kaiyrzhanov, R, Wagner, M, Shetty, S, Pagnozzi, A, Nordlie, SM, Guida, BS, Cornejo, P, Magee, H, Liu, J, Norton, BY, Webster, R, Worgan, L, Hakonarson, H, Li, J, Guo, Y, Jain, M, Blesson, A, Rodan, LH, Abbott, M-A, Comi, A, Cohen, JS, Alhaddad, B, Meitinger, T, Lenz, D, Ziegler, A, Kotzaeridou, U, Brunet, T, Chassevent, A, Smith-Hicks, C, Ekstein, J, Weiden, T, Hahn, A, Zharkinbekova, N, Turnpenny, P, Tucci, A, Yelton, M, Horvath, R, Gungor, S, Hiz, S, Oktay, Y, Lochmuller, H, Zollino, M, Manuela, M, Marangi, G, Nigro, V, Torella, A, Pinelli, M, Amenta, S, Husain, RA, Grossmann, B, Rapp, M, Steen, C, Marquardt, I, Grimmel, M, Grasshoff, U, Korenke, GC, Owczarek-Lipska, M, Neidhardt, J, Radio, FC, Mancini, C, Sepulveda, DJC, Mc Walter, K, Begtrup, A, Crunk, A, Sacoto, MJG, Person, R, Schnur, RE, Mancardi, MM, Kreuder, F, Striano, P, Zara, F, Chung, WK, Marks, WA, van Eyk, CL, Webber, DL, Corbett, MA, Harper, K, Berry, JG, Mac Lennan, AH, Gecz, J, Tartaglia, M, Salpietro, V, Christodoulou, J, Kaslin, J, Padilla-Lopez, S, Bilguvar, K, Munchau, A, Ahmed, ZM, Hufnagel, RB, Fahey, MC, Maroofian, R, Houlden, H, Sticht, H, Mane, SM, LRad, A, Vona, B, Jin, SC, Haack, TB, Makowski, C, Hirsch, Y, Riazuddin, S, Kruer, MC
المصدر: American Journal of Human Genetics , 108 (10) pp. 2006-2016. (2021)
مصطلحات موضوعية: neurodevelopmental disorder, movement disorder, cerebral palsy, epilepsy, SPATA5L1, intellectual disability, AAA+ superfamily, ATPase, sensorineural hearing loss
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10139869/3/Kaiyrzhanov_AJHG-S-21-000408-SPATA5L1_Manuscript_R1%20FINAL_accepted%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/10139869/
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6Academic Journal
المؤلفون: Kaiyrzhanov, R, Wortmann, S, Reid, T, Dehghani, M, Vahidi Mehrjardi, MY, Alhaddad, B, Wagner, M, Deschauer, M, Cordts, I, Fernandez-Murray, JP, Treffer, V, Metanat, Z, Pitman, A, Houlden, H, Meitinger, T, Carroll, C, McMaster, CR, Maroofian, R
المصدر: Brain (2021) (In press).
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10120488/1/awaa442.pdf; https://discovery.ucl.ac.uk/id/eprint/10120488/
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7Academic Journal
المؤلفون: Braunisch, M.C., Riedhammer, K.M., Herr, P.M., Draut, S., Günthner, R., Wagner, M., Weidenbusch, M., Lungu, A., Alhaddad, B., Renders, L., Strom, T.M., Heemann, U., Meitinger, T., Schmaderer, C., Hoefele, J.
المصدر: Eur. J. Hum. Genet. 29, 262–270 (2021)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/32887937; info:eu-repo/semantics/altIdentifier/wos/WOS:000566091400001; info:eu-repo/semantics/altIdentifier/isbn/1018-4813; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60025; urn:isbn:1018-4813; urn:issn:1018-4813; urn:issn:1476-5438
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8Academic Journal
المؤلفون: Riedhammer, K.M., Stockler, S., Ploski, R., Wenzel, M., Adis-Dutschmann, B., Ahting, U., Alhaddad, B., Blaschek, A., Haack, T.B., Kopajtich, R., Lee, J.Y., Murcia Pienkowski, V., Pollak, A., Szymanska, K., van der Lee, R., van Karnebeek, C.D.M., Meitinger, T., Krägeloh-Mann, I., Vill, K.
المصدر: Brain 144, 411-419 (2021)
مصطلحات موضوعية: Cldn11, Exome, Hypomyelinating Leukodystrophy, Stop-loss, Tight Junction
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33313762; info:eu-repo/semantics/altIdentifier/wos/WOS:000649446500020; info:eu-repo/semantics/altIdentifier/isbn/0006-8950; info:eu-repo/semantics/altI; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60758; urn:isbn:0006-8950; urn:issn:0006-8950; urn:issn:1460-2156
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9Academic Journal
المؤلفون: Brunet, T., Jech, R., Brugger, M., Kovacs, R., Alhaddad, B., Leszinski, G., Riedhammer, K.M., Westphal, D.S., Mahle, I., Mayerhanser, K., Škorvánek, M., Weber, S., Graf, E., Berutti, R., Necpál, J., Havránková, P., Pavelekova, P., Hempel, M., Kotzaeridou, U., Hoffmann, G.F., Leiz, S., Makowski, C., Roser, T., Schroeder, S.A., Steinfeld, R., Strobl-Wildemann, G., Hoefele, J., Borggraefe, I., Distelmaier, F., Strom, T.M., Winkelmann, J., Meitinger, T., Zech, M., Wagner, M.
المصدر: Clin. Genet. 100, 14-28 (2021)
مصطلحات موضوعية: Autism, Candidate Gene, De Novo Variant, Exome Sequencing, Intellectual Disability, Neurodevelopmental Disorder, Reanalysis
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/33619735; info:eu-repo/semantics/altIdentifier/wos/WOS:000623501000001; info:eu-repo/semantics/altIdentifier/isbn/0009-9163; info:eu-repo/semantics/altIdent; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=61486; urn:isbn:0009-9163; urn:issn:0009-9163; urn:issn:1399-0004
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10Academic Journal
المؤلفون: Begemann, A, Sticht, H, Begtrup, A, Vitobello, A, Faivre, L, Banka, S, Alhaddad, B, Asadollahi, R, Becker, J, Bierhals, T, Brown, KE, Bruel, AL, Brunet, T, Rauch, A
المصدر: Begemann , A , Sticht , H , Begtrup , A , Vitobello , A , Faivre , L , Banka , S , Alhaddad , B , Asadollahi , R , Becker , J , Bierhals , T , Brown , KE , Bruel , AL , Brunet , T & Rauch , A 2020 , ' New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics. ' , Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01011-x
مصطلحات موضوعية: CYFIP2, WASF, WAVE-regulatory complex (WRC), epilepsy, intellectual disability
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11Academic Journal
المؤلفون: Zech M., Jech R., Boesch S., ¿korvánek M., Weber S., Wagner M., Zhao C., Jochim A., Necpál J., Dincer Y., Vill K., Distelmaier F., Stoklosa M., Krenn M., Grunwald S., Bock-Bierbaum T., Fecíková A., Havránková P., Roth J., Príhodová I., Adamovicová M., Ulmanová O., Bechyne K., Danhofer P., Veselý B., Han V., Pavelekova P., Gdovinová Z., Mantel T., Meindl T., Sitzberger A., Schröder S., Blaschek A., Roser T., Bonfert M.V., Haberlandt E., Plecko B., Leineweber B., Berweck S., Herberhold T., Langguth B., ¿vantnerová J., Minár M., Ramos-Rivera G.A., Wojcik M.H., Pajusalu S., Õunap K., Schatz U.A., Pölsler L., Milenkovic I., Laccone F., Pilshofer V., Colombo R., Patzer S., Iuso A., Vera J., Troncoso M., Fang F., Prokisch H., Wilbert F., Eckenweiler M., Graf E., Westphal D.S., Riedhammer K.M., Brunet T., Alhaddad B., Berutti R., Strom T.M., Hecht M., Baumann M., Wolf M., Telegrafi A., Person R.E., Zamora F.M., Henderson L.B., Weise D., Musacchio T., Volkmann J., Szuto A., Becker J., Cremer K., Sycha T., Zimprich F., Kraus V., Makowski C., Gonzalez-Alegre P., Bardakjian T.M., Ozelius L.J., Vetro A., Guerrini R., Maier E., Borggraefe I., Kuster A., Wortmann S.B., Hackenberg A., Steinfeld R., Assmann B., Staufner C., Opladen T., Ru¿icka E., Cohn R.D., Dyment D., Chung W.K., Engels H., Ceballos-Baumann A., Ploski R., Daumke O., Haslinger B., Mall V., Oexle K., Winkelmann J.
المصدر: The Lancet Neurology
وصف الملف: application/pdf
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12Academic Journal
المؤلفون: Lenz, D., Smith, D.E.C., Crushell, E., Husain, R.A., Salomons, G.S., Alhaddad, B., Bernstein, J.A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T.B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., Kathemann, S., Kopajtich, R., Kotzaeridou, U., Küry, S., Lainka, E., Laugwitz, L., Lupski, J.R., Posey, J.E., Reynolds, C., Rosenfeld, J.A., Schröter, J., Vansenne, F., Wagner, M., Weiß, C., Wolffenbuttel, B.H.R., Wortmann, S.B., Kölker, S., Hoffmann, G.F., Prokisch, H., Mendes, M.I., Staufner, C.
المصدر: Genet. Med. 22, 1863-1873 (2020)
مصطلحات موضوعية: Lars1, Infantile Liver Failure Syndrome Type 1, Acute Liver Failure, Aminoacyl-trna Synthetase Deficiency, Metabolic Stroke
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/32699352; info:eu-repo/semantics/altIdentifier/wos/WOS:000551406500001; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=59757; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600
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13Academic Journal
المؤلفون: Neuhofer, C.M., Catarino, C.B., Schmidt, H., Seelos, K., Alhaddad, B., Haack, T.B., Klopstock, T.
المصدر: Neurol. Genet. 6:e500 (2020)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000590873700006; info:eu-repo/semantics/altIdentifier/isbn/2376-7839; info:eu-repo/semantics/altIdentifier/pissn/2376-7839; info:eu-repo/seman; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60530; urn:isbn:2376-7839; urn:issn:2376-7839
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14Academic Journal
المؤلفون: Wagner, M., Skorobogatko, Y., Pode-Shakked, B., Powell, C.M., Alhaddad, B., Seibt, A., Barel, O., Heimer, G., Hoffmann, C., Demmer, L.A., Perilla-Young, Y., Remke, M., Wieczorek, D., Navaratnarajah, T., Lichtner, P., Klee, D., Shamseldin, H.E., Al Mutairi, F., Mayatepek, E., Strom, T., Meitinger, T., Alkuraya, F.S., Anikster, Y., Saltiel, A.R., Distelmaier, F.
المصدر: Am. J. Hum. Genet. 106, 246-255 (2020)
مصطلحات موضوعية: Epilepsy, Garnl1, Muscular Hypotonia, Neurodevelopmental Disorder, Rala Signaling, Tulip1, West Syndrome
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/32004447; info:eu-repo/semantics/altIdentifier/wos/WOS:000512913300009; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=58871; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605
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15Report
المؤلفون: Richard, E. M., Bakhtiari, S., Marsh, A. P. L., Kaiyrzhanov, R., Wagner, M., Shetty, S., Pagnozzi, A., Nordlie, S. M., Guida, B. S., Cornejo, P., Magee, H., Liu, J., Norton, B. Y., Webster, R. I., Worgan, L., Hakonarson, H., Li, J., Guo, Y., Jain, M., Blesson, A., Rodan, L. H., Abbott, M. A., Comi, A., Cohen, J. S., Alhaddad, B., Meitinger, T., Lenz, D., Ziegler, A., Kotzaeridou, U., Brunet, T., Chassevent, A., Smith-Hicks, C., Ekstein, J., Weiden, T., Hahn, A., Zharkinbekova, N., Turnpenny, P., Tucci, A., Yelton, M., Horvath, R., Gungor, S., Hiz, S., Oktay, Y., Lochmuller, H., Zollino, M., Morleo, M., Marangi, G., Nigro, V., Torella, A., Pinelli, M., Amenta, S., Husain, R. A., Grossmann, B., Rapp, M., Steen, C., Marquardt, I., Grimmel, M., Grasshoff, U., Korenke, G. C., Owczarek-Lipska, M., Neidhardt, J., Radio, F. C., Mancini, C., Claps Sepulveda, D. J., McWalter, K., Begtrup, A., Crunk, A., Guillen Sacoto, M. J., Person, R., Schnur, R. E., Mancardi, M. M., Kreuder, F., Striano, P., Zara, F., Chung, W. K., Marks, W. A., van Eyk, C. L., Webber, D. L., Corbett, M. A., Harper, K., Berry, J. G., MacLennan, A. H., Gecz, J., Tartaglia, M., Salpietro, V., Christodoulou, J., Kaslin, J., Padilla-Lopez, S., Bilguvar, K., Munchau, A., Ahmed, Z. M., Hufnagel, R. B., Fahey, M. C., Maroofian, R., Houlden, H., Sticht, H., Mane, S. M., Rad, A., Vona, B., Jin, S. C., Haack, T. B., Makowski, C., Hirsch, Y., Riazuddin, S., Kruer, M. C.
مصطلحات موضوعية: ATPases Associated with Diverse Cellular Activities/genetics, Adolescent, Adult, Alleles, Animals, Cerebral Palsy/etiology/metabolism/*pathology, Child, Preschool, Epilepsy/etiology/metabolism/*pathology, Female, Genetic Predisposition to Disease, Genetic Variation, Hearing Loss/etiology/metabolism/*pathology, Humans, Infant, Newborn, Intellectual Disability/etiology/metabolism/*pathology, Male, Muscle Spasticity/etiology/metabolism/*pathology, Rats, Young Adult, AAA+ superfamily, ATPase, spata5l1, cerebral palsy, epilepsy, intellectual disability, movement disorder, neurodevelopmental disorder, sensorineural hearing loss
Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(21)00302-5; Am J Hum Genet. 2021 Oct 7;108(10):2006-2016. doi:10.1016/j.ajhg.2021.08.003.; https://rde.dspace-express.com/handle/11287/622267; American journal of human genetics; PMC8546233
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16Academic Journal
المؤلفون: Park, J., Koko, M., Hedrich, U.B.S., Hermann, A., Cremer, K., Haberlandt, E., Grimmel, M., Alhaddad, B., Beck-Woedl, S., Harrer, M., Karall, D., Kingelhoefer, L., Tzschach, A., Matthies, L.C., Strom, T.M., Ringelstein, E.B., Sturm, M., Engels, H., Wolff, M., Lerche, H., Haack, T.B.
المصدر: Ann. Clin. Transl. Neurol. 6, 1319-1326 (2019)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31353862; info:eu-repo/semantics/altIdentifier/wos/WOS:000476766600016; info:eu-repo/semantics/altIdentifier/isbn/2328-9503; info:eu-repo/semantics/altIden; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=56384; urn:isbn:2328-9503; urn:issn:2328-9503
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17Academic Journal
المؤلفون: Mahler, E.A., Johannsen, J., Tsiakas, K., Kloth, K., Lüttgen, S., Mühlhausen, C., Alhaddad, B., Haack, T.B., Strom, T.M., Kortüm, F., Meitinger, T., Muntau, A.C., Santer, R., Kubisch, C., Lessel, D., Denecke, J., Hempel, M.
المصدر: Dtsch. Arztebl. Int. 116, 197-204 (2019)
وصف الملف: application/pdf
Relation: info:eu-repo/semantics/altIdentifier/pmid/31056085; info:eu-repo/semantics/altIdentifier/wos/WOS:000466985200002; info:eu-repo/semantics/altIdentifier/isbn/1866-0452; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=55987; urn:isbn:1866-0452; urn:issn:1866-0452
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18Academic Journal
المؤلفون: Alhaddad, B. I., Burns, M. C., Roca, J.
المصدر: eISSN: 2194-9034
وصف الملف: application/pdf
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19Academic Journal
المؤلفون: Colaninno, N., Roca, J., Burns, M., Alhaddad, B.
المصدر: eISSN: 2194-9034
وصف الملف: application/pdf
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20Academic Journal
المؤلفون: Alhaddad, B., Arellano, B. E., Roca, J.
المصدر: eISSN: 2194-9034
وصف الملف: application/pdf