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1Academic Journal
المؤلفون: Joksic I, Cuturilo G, Jurisic A, Djuricic S, Peterlin B, Mijovic M, Karadzov Orlic N, Egic A, Milovanovic Z
المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 83-88 (2019)
مصطلحات موضوعية: autopsy, filamin a gene (flna), microphtalmia, otoplalatodigital syndrome type i (opd type i), prenatal diagnosis (pnd), Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1311-0160
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2Academic Journal
المؤلفون: Van der Spek, J., Den Hoed, J., Snijders Blok, L., Dingemans, A., Schijven, D., Nellaker, C., Venselaar, H., Astuti, G., Barakat, T., Bebin, E., Beck-Wödl, S., Beunders, G., Brown, N., Brunet, T., Brunner, H., Campeau, P., Čuturilo, G., Gilissen, C., Haack, T., Hüning, I., Husain, R., Kamien, B., Lim, S., Lovrecic, L., Magg, J., Maver, A., Miranda, V., Monteil, D., Ockeloen, C., Pais, L., Plaiasu, V., Raiti, L., Richmond, C., Rieß, A., Schwaibold, E., Simon, M., Spranger, S., Tan, T., Thompson, M., De Vries, B., Wilkins, E., Willemsen, M., Francks, C., Vissers, L., Fisher, S., Kleefstra, T.
المصدر: Genetics in Medicine
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.spreadsheetml.sheet
Relation: http://hdl.handle.net/21.11116/0000-000A-1046-5; http://hdl.handle.net/21.11116/0000-000A-94E3-E; http://hdl.handle.net/21.11116/0000-000A-94E4-D; http://hdl.handle.net/21.11116/0000-000A-94E5-C
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3Academic 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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4Academic Journal
المؤلفون: Chawner, SJRA, Doherty, JL, Anney, RJL, Antshel, KM, Bearden, CE, Bernier, R, Chung, WK, Clements, CC, Curran, SR, Cuturilo, G, Fiksinski, AM, Gallagher, L, Goin-Kochel, RP, Gur, RE, Hanson, E, Jacquemont, S, Kates, WR, Kushan, L, Maillard, AM, McDonald-McGinn, DM, Mihaljevic, M, Miller, JS, Moss, H, Pejovic-Milovancevic, M, Schultz, RT, Green-Snyder, L, Vorstman, JA, Wenger, TL, IMAGINE-ID Consortium, Hall, J, Owen, MJ, van den Bree, MBM
المصدر: The American Journal of Psychiatry , 178 (1) pp. 77-86. (2021)
مصطلحات موضوعية: Autism, Copy Number Variants, Genetics, Autistic Disorder, Child, DNA Copy Number Variations, Gene Deletion, Genetic Association Studies, Genetic Predisposition to Disease, Heterozygote, Humans, Interview, Psychological, Male, Prevalence, Risk Factors, Severity of Illness Index
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10124747/1/Manuscript%20AJP.pdf; https://discovery.ucl.ac.uk/id/eprint/10124747/
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5Academic Journal
المؤلفون: Oliva-Teles, N, De Stefano, MC, Gallagher, L, Rakic, S, Jorge, P, Cuturilo, G, Markovska-Simoska, S, Borg, I, Wolstencroft, J, Tümer, Z, Harwood, AJ, Kodra, Y, Skuse, D
المصدر: International Journal of Environmental Research and Public Health , 17 (24) , Article 9253. (2020)
مصطلحات موضوعية: 16p11.2 deletion, 16p11.2 duplication, BP4–BP5, copy numbers variants, neurodevelopmental disorders, rare diseases
وصف الملف: text
Relation: https://discovery.ucl.ac.uk/id/eprint/10118488/1/ijerph-17-09253-v2.pdf; https://discovery.ucl.ac.uk/id/eprint/10118488/
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6Academic Journal
المؤلفون: Maver A, Čuturilo G, Ruml Stojanović J, Peterlin B
المصدر: Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 65-68 (2019)
مصطلحات موضوعية: growth delay, h3f3a gene, intellectual disability, microcephaly, severe developmental delay, Genetics, QH426-470
Relation: https://doi.org/10.2478/bjmg-2019-0028; https://doaj.org/toc/1311-0160; https://doaj.org/article/186768aefc7b48a78481e0de037c205a
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7Academic Journal
المؤلفون: Pannone, L, BOCCHINFUSO, GIANFRANCO, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, Mc, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, Bd, Dallapiccola, B, STELLA, LORENZO, Ferrero, Gb, Martinelli, S, Tartaglia, M.
المساهمون: Pannone, L, Bocchinfuso, G, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, M, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, B, Dallapiccola, B, Stella, L, Ferrero, G, Martinelli, S, Tartaglia, M
مصطلحات موضوعية: Noonan syndrome, PTPN11 mutation, genotype-phenotype correlation analysi, structural and functional studies, Settore CHIM/02 - CHIMICA FISICA
Relation: info:eu-repo/semantics/altIdentifier/pmid/28074573; info:eu-repo/semantics/altIdentifier/wos/WOS:000397454000012; journal:HUMAN MUTATION; http://hdl.handle.net/2108/175492; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85012045855
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8Academic 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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9Academic Journal
المؤلفون: Tumienė, Birutė, Maver, A., Writzl, K., Hodžić, A., Čuturilo, G., Kuzmanić-Šamija, R., Čulić, V., Peterlin, B.
المصدر: Clinical genetics, Hoboken : Wiley-Blackwell Publishing, Inc., 2018, vol. 93, p. 1057-1062 ; ISSN 0009-9163 ; eISSN 1399-0004
مصطلحات موضوعية: diagnostic yield, epilepsy genetics, monogenic epilepsies, next-generation sequencing, SOX5, UBA5
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10Academic Journal
المؤلفون: Tumienė, B., Maver, A., Writzl, K., Hodžić, A., Čuturilo, G., Kuzmanić‐Šamija, R., Čulić, V., Peterlin, B.
المصدر: Clinical Genetics ; volume 93, issue 5, page 1057-1062 ; ISSN 0009-9163 1399-0004
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11Conference
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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12Academic Journal
المؤلفون: Medjo, B, Vunjak, N, Atanaskovic-Markovic, M, Rsovac, S, Nikolic, D, Kalanj, J, Cuturilo, G
مصطلحات موضوعية: Respiratory mechanical ventilation
وصف الملف: text/html
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13Academic Journal
المؤلفون: Harms, FL, Alawi, M, Amor, DJ, Tan, TY, Cuturilo, G, Lissewski, C, Brinkmann, J, Schanze, D, Kutsche, K, Zenker, M
Relation: Harms, F. L., Alawi, M., Amor, D. J., Tan, T. Y., Cuturilo, G., Lissewski, C., Brinkmann, J., Schanze, D., Kutsche, K. & Zenker, M. (2018). The novel RAF1 mutation p.(Gly361Ala) located outside the kinase domain of the CR3 region in two patients with Noonan syndrome, including one with a rare brain tumor. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 176 (2), pp.470-476. https://doi.org/10.1002/ajmg.a.38569.; http://hdl.handle.net/11343/294067
الاتاحة: http://hdl.handle.net/11343/294067
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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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16Conference
المؤلفون: Rakonjac, M., Jelicić Dobrijević, L., Drakulić, Danijela, Cuturilo, G., Jovanović, I., Stevanović, M., Vujović, M.
المصدر: European Child & Adolescent Psychiatry
مصطلحات موضوعية: Speech impairment, Speech and Language treatment, 22q11 deletion syndrome
Relation: https://imagine.imgge.bg.ac.rs/handle/123456789/798; https://hdl.handle.net/21.15107/rcub_imagine_798; 000367823900645
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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: Cuturilo, G., Hodge, J.C., Runke, C.K., Thorland, E.C., Al‐Owain, M.A., Ellison, J.W., Babovic‐Vuksanovic, D.
المصدر: Clinical Genetics ; volume 89, issue 1, page 109-114 ; ISSN 0009-9163 1399-0004
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19Academic Journal
المؤلفون: Borković Milan, Čuturilo Goran, Cerovac Nataša
المصدر: Vojnosanitetski Pregled, Vol 79, Iss 2, Pp 196-200 (2022)
مصطلحات موضوعية: chromosome aberrations, clinical medicine, cognitive dysfunction, drug resistant epilepsy, ring chromosome 20 syndrome, drug therapy, Medicine (General), R5-920
وصف الملف: electronic resource
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20Academic Journal
المؤلفون: Bojic, V.B., Cobeljic, V., Sajic, S., Petrovic, M., Zdravkovic, V., Maja, J., Cuturilo, G.
المصدر: Neuropsychiatrie de l'Enfance et de l'Adolescence ; volume 60, issue 5, page S232-S233 ; ISSN 0222-9617