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1Academic Journal
المؤلفون: Ivanovski I, Djuric O, Broccoli S, Caraffi SG, Accorsi P, Adam MP, Avela K, Badura-Stronka M, Bayat A, Clayton-Smith J, Cocco I, Cordelli DM, Cuturilo G, Di Pisa V, Garcia JD, Gastaldi R, Giordano L, Guala A, Hoei-Hansen C, Inaba M, Iodice A, Nielsen JEK, Kuburovic V, Lazalde-Medina B, Malbora B, Mizuno S, Moldovan O, Moller RS, Muschke P, Otelli V, Pantaleoni C, Piscopo C, Poch-Olive ML, Prpic I, Reina PM, Raviglione F, Ricci E, Scarano E, Simonte G, Smigiel R, Tanteles G, Tarani L, Trimouille A, Valera ET, Vergano SS, Writzl K, Callewaert B, Savasta S, Street ME, Iughetti L, Bernasconi S, Rossi PG, Garavelli L
المساهمون: Ivanovski, I, Djuric, O, Broccoli, S, Caraffi, Sg, Accorsi, P, Adam, Mp, Avela, K, Badura-Stronka, M, Bayat, A, Clayton-Smith, J, Cocco, I, Cordelli, Dm, Cuturilo, G, Di Pisa, V, Garcia, Jd, Gastaldi, R, Giordano, L, Guala, A, Hoei-Hansen, C, Inaba, M, Iodice, A, Nielsen, Jek, Kuburovic, V, Lazalde-Medina, B, Malbora, B, Mizuno, S, Moldovan, O, Moller, R, Muschke, P, Otelli, V, Pantaleoni, C, Piscopo, C, Poch-Olive, Ml, Prpic, I, Reina, Pm, Raviglione, F, Ricci, E, Scarano, E, Simonte, G, Smigiel, R, Tanteles, G, Tarani, L, Trimouille, A, Valera, Et, Vergano, S, Writzl, K, Callewaert, B, Savasta, S, Street, Me, Iughetti, L, Bernasconi, S, Rossi, Pg, Garavelli, L
مصطلحات موضوعية: Mowat-Wilson syndrome, ZEB2, Growth chart, Weight, Length, Height, Head circumference, Body mass index, BMI
Relation: info:eu-repo/semantics/altIdentifier/pmid/32539836; info:eu-repo/semantics/altIdentifier/wos/WOS:000542252700002; volume:15; issue:1; numberofpages:12; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11584/344613; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85086624343
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2Book
المؤلفون: Güneş B.T., Siviş Z.Ö., Ataseven E., Malbora B., Türker M., Belen F.B., Atabay B., Atik T., Işık E., Özkınay F.
المساهمون: Ege Üniversitesi
مصطلحات موضوعية: Female, Hemophilia, Intracranial bleeding
Relation: Diğer; Turkish Journal of Hematology; https://doi.org/10.4274/tjh.2017.0385; https://hdl.handle.net/11454/25283; 35; 202; 203
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3Academic Journal
المؤلفون: Tüfekçi, Ö., Hekimci Özdemir, H., Malbora, B., Özbek, N.Y., Yaralı, N., Erdem, A., Evim, M., Baytan, B., Karapınar, T., Oymak, Y., Yılmaz, S., Yılmaz Karapınar, D.
المصدر: HemaSphere ; volume 3, issue S1, page 846-847 ; ISSN 2572-9241 2572-9241
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4Academic Journal
المؤلفون: Arman Bilir, O., Dikme, G., Malbora, B., Evim, M.S., OnderSivis, Z., Tufekci, O., Bahadır, A., Karaman, S., Vural, S., Bayhan, T., Celkan, T., Ozbek, N.Y.
المصدر: HemaSphere ; volume 3, issue S1, page 43-44 ; ISSN 2572-9241 2572-9241
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5Academic Journal
المؤلفون: Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L
المصدر: Ivanovski , I , Djuric , O , Caraffi , SG , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , MP , Ajmone , PF , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , DeVriendt , K , Dinulos , MB , Hjortshoj ....
مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02
وصف الملف: application/pdf
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6Conference
المؤلفون: Ivanovski, I., Djuric, O., Broccoli, S., Caraffi, S., Accorsi, P., Adam, M. P., Avela, K., Badura-Stronka, M., Bayat, A., Clayton-Smith, J., Cordelli, D., Cuturilo, G., Di Pisa, V., Garcia, J. Dupont, Gastaldi, R., Giordano, L., Guala, A., Hoei-Hansen, C., Inaba, M., Iodice, A., Nielsen, J., Kuburovic, V., Lazalde-Medina, B., Malbora, B., Mizuno, S., Moldovan, O., Moller, R., Muschke, P., Pantaleoni, C., Piscopo, C., Poch-Olive, M., Prpic, I., Purificacion, M., Raviglione, F., Ricci, E., Scarano, E., Smigiel, R., Tanteles, G., Tarani, L., Trimouille, A., Valera, E., Vergano, S., Writzl, K., Callewaert, B., Savasta, S., Street, M., Iughetti, L., Bernasconi, S., Rossi, P. Giorgi, Garavelli, L.
المصدر: Ivanovski , I , Djuric , O , Broccoli , S , Caraffi , S , Accorsi , P , Adam , M P , Avela , K , Badura-Stronka , M , Bayat , A , Clayton-Smith , J , Cordelli , D , Cuturilo , G , Di Pisa , V , Garcia , J D , Gastaldi , R , Giordano , L , Guala , A , Hoei-Hansen , C , Inaba , M , Iodice , A , Nielsen , J , Kuburovic , V , Lazalde-Medina , B , Malbora , B , ....
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7Conference
المؤلفون: Gunes, B. T., Sivis, Z. O., Ataseven, E., Malbora, B., Turker, M., Atabay, B., Belen, F. B., Atik, T., Isik, E., Özkınay, Ferda
Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Haemophilia; https://hdl.handle.net/11454/30736; 24; 73; 74
الاتاحة: https://hdl.handle.net/11454/30736
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8Academic Journal
المؤلفون: Yazal Erdem A, Demir Yenigürbüz F, Pekpak E, Akıncı B, Aktekin E, Bayram C, Yıldırmak ZY, Ataseven E, Akbayram S, Şaşmaz İ, Taburoğlu Yılmaz B, Özkan A, Akpınar Tekgündüz S, Köse D, Karapınar T, Büyükavcı M, Sal E, Bayhan T, Kirkiz S, Ünal Ş, Vergin RC, Çil M, Malbora B, Ayçiçek A, Yaralı HN, Özbek NY.
Relation: Pediatr Blood Cancer; Makale - Uluslararası Hakemli Dergi; Demir Yenigürbüz F, Pekpak E, Akıncı B.Pediatr Blood Cancer. 2019 May;66(5):e27636. doi:10.1002/pbc.27636. Epub 2019 Feb 1.; http://doi.org/10.1002/pbc.27636; https://hdl.handle.net/20.500.12619/71718
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9Academic Journal
المؤلفون: Sarbay, H., Atay, T., Atay, A., Malbora, B., Uçar, F. Garip, Rezanko, T. Atasever, Bakar, N.
المصدر: Leukemia Research ; volume 85, page S77-S78 ; ISSN 0145-2126
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10Academic Journal
المؤلفون: Sarbay, H., Rizvanovic, Z., Rezanko, T. Atasever, Yılmaz, Ş., Sarbay, B. Coşan, Malbora, B., Atay, A.
المصدر: Leukemia Research ; volume 85, page S73 ; ISSN 0145-2126
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11Academic Journal
المؤلفون: Sarbay, H., Atay, A., Malbora, B., Petmezci, E., Rezanko, T. Atasever, Gezginadam, Z., Şalvız, M., Bakar, N., Atay, T.
المصدر: Leukemia Research ; volume 85, page S72 ; ISSN 0145-2126
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12Conference
المؤلفون: Sivis, Z., Malbora, B., Belen, F. B., Gunes, B., Kamer, S., Atabay, B., Turker, M., Oniz, H., Ataseven, E., Anacak, Y.
Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Pediatric Blood & Cancer; https://hdl.handle.net/11454/31545; 64; S203
الاتاحة: https://hdl.handle.net/11454/31545
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13Conference
المؤلفون: Ataseven, E., Sivis, Z., Malbora, B., Belen, F. B., Gunes, B., Kamer, S., Anacak, Y., Atabay, B., Turker, M., Oniz, H.
المساهمون: Ege Üniversitesi
Relation: Konferans Öğesi - Uluslararası - Kurum Öğretim Elemanı; Pediatric Blood & Cancer; https://hdl.handle.net/11454/31545; 64; S203
الاتاحة: https://hdl.handle.net/11454/31545
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14Academic Journal
المؤلفون: Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR
المساهمون: Garavelli, L, Ivanovski, I, Caraffi, Sg, Santodirocco, D, Pollazzon, M, Cordelli, Dm, Abdalla, E, Accorsi, P, Adam, Mp, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, Mb, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, Ml, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, Lg, Toutain, A, Trimouille, A, Valera, Et, Vergano, S, Zanotta, N, Zollino, M, Dobyns, Wb, Paciorkowski, Ar
مصطلحات موضوعية: agenesis of corpus callosum, brain MRI, Genotype-phenotype correlation Mowat-wilson syndrome
Relation: info:eu-repo/semantics/altIdentifier/pmid/27831545; info:eu-repo/semantics/altIdentifier/wos/WOS:000402517400012; volume:19; issue:6; firstpage:691; lastpage:700; numberofpages:10; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11584/349546; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020205876
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15Conference
المؤلفون: Garavelli, L, Ivanovski, I, Caraffi, SG, Santodirocco, D, Pollazzon, M, Cordelli, DM, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, P, Badura-Stronka, M, Baldo, C, Bayat, A, Belligni, E, Bigoni, S, Bonvicini, F, Breckpot, Jeroen, Callewaert, B, Gocchi, G, Cuturilo, G, De Brasi, D, Devriendt, Koenraad, Dinulos, MB, Djuric, O, Duelund HJortshoj, T, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Moutton, S, Moller, R, Muschke, P, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Poch Olive, ML, Raviglione, F, Rivieri, F, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Gonzaga Tone, L, Toutain, A, Trimouille, A, Terci Valera, E, Schrier Vergano, S, Zanotta, N, Zenker, M, Zollino, M, Zweieer, C, Dobyns, WB, Paciorkowski, AR
Relation: Genetic Counseling vol:27 issue:4 pages:550-553; Twenty-seventh European meeting on Dysmorphology location:Strasbourg, France date:7-9 September 2016; https://lirias.kuleuven.be/handle/123456789/560172
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16Academic Journal
المؤلفون: Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
المساهمون: Wenger, Tl, Harr, M, Ricciardi, S, Bhoj, E, Santani, A, Adam, Mp, Barnett, S, Ganetzky, R, McDonald-McGinn, Dm, Battaglia, D, Bigoni, S, Selicorni, A, Sorge, G, Monica, Md, Mari, F, Andreucci, E, Romano, S, Cocchi, G, Savasta, S, Malbora, B, Marangi, G, Garavelli, L, Zollino, M, Zackai, Eh
Relation: info:eu-repo/semantics/altIdentifier/pmid/26097173; info:eu-repo/semantics/altIdentifier/wos/WOS:000356676200092; volume:167; issue:7; firstpage:1682; lastpage:1683; numberofpages:2; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11584/349538; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84931562051
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17Electronic Resource
المؤلفون: Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), Garavelli, L. (Livia)
مصطلحات الفهرس: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, info:eu-repo/semantics/article
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18Academic Journal
المؤلفون: Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH
المساهمون: Wenger, Tl, Harr, M, Ricciardi, S, Bhoj, E, Santani, A, Adam, Mp, Barnett, S, Ganetzky, R, McDonald-McGinn, Dm, Battaglia, D, Bigoni, S, Selicorni, A, Sorge, G, Monica, Md, Mari, F, Andreucci, E, Romano, S, Cocchi, G, Savasta, S, Malbora, B, Marangi, G, Garavelli, L, Zollino, M, Zackai, Eh
مصطلحات موضوعية: CHARGE syndrome, Craniosynostosi, Mowat-Wilson syndrome
Relation: info:eu-repo/semantics/altIdentifier/pmid/25123255; info:eu-repo/semantics/altIdentifier/wos/WOS:000342279600023; volume:164A; issue:10; firstpage:2557; lastpage:2566; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11584/349848
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19Academic Journal
المؤلفون: Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mostardini R, Pantaleoni C, Doz M, Poch Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E., MARI, FRANCESCA, BUONI, SABRINA, GROSSO, SALVATORE
المساهمون: Cordelli, Dm, Garavelli, L, Savasta, S, Guerra, A, Pellicciari, A, Giordano, L, Bonetti, S, Cecconi, I, Wischmeijer, A, Seri, M, Rosato, S, Gelmini, C, Della Giustina, E, Ferrari, Ar, Zanotta, N, Epifanio, R, Grioni, D, Malbora, B, Mammi, I, Mari, Francesca, Buoni, Sabrina, Mostardini, R, Grosso, Salvatore, Pantaleoni, C, Doz, M, Poch Olivé, Ml, Rivieri, F, Sorge, G, Simonte, G, Licata, F, Tarani, L, Terazzi, E, Mazzanti, L, Cerruti Mainardi, P, Boni, A, Faravelli, F, Grasso, M, Bianchi, P, Zollino, M, Franzoni, E.
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/23322667; info:eu-repo/semantics/altIdentifier/wos/WOS:000314150600008; volume:161; issue:2; firstpage:273; lastpage:284; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11365/43728; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872913059
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20Academic Journal
المؤلفون: Erol, S., Aydin, B., Dilli, D., Malbora, B., beken, S., Cinar, H.G., Zencirioglu, A., Okumus, N.
المصدر: Pediatric Critical Care Medicine ; volume 15, page 142-143 ; ISSN 1529-7535