المؤلفون: Salpietro V., Maroofian R., Zaki M. S., Wangen J., Ciolfi A., Barresi S., Efthymiou S., Lamaze A., Aughey G. N., Al Mutairi F., Rad A., Rocca C., Cali E., Accogli A., Zara F., Striano P., Mojarrad M., Tariq H., Giacopuzzi E., Taylor J. C., Oprea G., Skrahina V., Rehman K. U., Abd Elmaksoud M., Bassiony M., El Said H. G., Abdel-Hamid M. S., Al Shalan M., Seo G., Kim S., Lee H., Khang R., Issa M. Y., Elbendary H. M., Rafat K., Marinakis N. M., Traeger-Synodinos J., Ververi A., Sourmpi M., Eslahi A., Khadivi Zand F., Beiraghi Toosi M., Babaei M., Jackson A., Hannah M. G., Bugiardini E., Bertini E., Kriouile Y., El-Khorassani M., Aguennouz M., Groppa S., Karashova B. M., Goraya J. S., Sultan T., Avdjieva D., Kathom H., Tincheva R., Banu S., Veggiotti P., Verrotti A., Lanari M., Savasta S., Macaya A., Garavaglia B., Borgione E., Papacostas S., Vikelis M., Chelban V., Kaiyrzhanov R., Cortese A., Sullivan R., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Zuccotti G. V., Marseglia G. L., Esposito S., Shaikh F., Cogo P., Corsello G., Mangano S., Nardello R., Mangano D., Scardamaglia A., Koutsis G., Scuderi C., Ferrara P., Morello G., Zollo M., Berni-Canani R., Terracciano L. M., Sisto A., Di Fabio S., Strano F., Scorrano G., Di Bella S., Di Francesco L., Manizha G., Isrofilov M., Guliyeva U., Salayev K., Khachatryan S., Xiromerisiou G., Spanaki C., Fiorillo C., Iacomino M., Gaudio E., Munell F., Gagliano A., Jan F., Chimenz R., Gitto E., Iughetti L., Di Rosa G., Maghnie M., Pettoello-Mantovani M., Gupta N., Kabra M., Benrhouma H., Tazir M., Bottone G., Farello G., Delvecchio M., Di-Donato G., Obeid M., Bakhtadze S., Saadi N. W., Miraglia-Del-Giudice M., Maccarone R., Triki C. C., Kara M., Karimiani E. G., Salih A. M., Ramenghi L. A., Seri M., Di-Falco G., Mandara L., Barrano G., Elisa M., Cherubini E., Operto F. F., Valenzise M., Cattaneo A., Zazzeroni F., Alesse E., Matricardi S., Zafar F., Ullah E., Afzal E., Rahman F., Ahmed M. M., Parisi P., Spalice A., De Filippo M., Licari A., Trebbi E., Romano F., Heimer G., Al-Khawaja I., Al-Mutairi F., Alkuraya F. S., Rizig M., Shashkin C., Zharkynbekova N., Koneyev K., Bertoli-Avella A., Pagnamenta A. T., Niceta M., Battini R., Corsello A., Leoni C., Chiarelli F., Dallapiccola B., Faqeih E. A., Tallur K. K., Alfadhel M., Alobeid E., Maddirevula S., Mankad K., Banka S., Ghayoor-Karimiani E., Tartaglia M., Chung W. K., Green R., Jepson J. E. C., Houlden H.

المساهمون: Salpietro, V., Maroofian, R., Zaki, M. S., Wangen, J., Ciolfi, A., Barresi, S., Efthymiou, S., Lamaze, A., Aughey, G. N., Al Mutairi, F., Rad, A., Rocca, C., Cali, E., Accogli, A., Zara, F., Striano, P., Mojarrad, M., Tariq, H., Giacopuzzi, E., Taylor, J. C., Oprea, G., Skrahina, V., Rehman, K. U., Abd Elmaksoud, M., Bassiony, M., El Said, H. G., Abdel-Hamid, M. S., Al Shalan, M., Seo, G., Kim, S., Lee, H., Khang, R., Issa, M. Y., Elbendary, H. M., Rafat, K., Marinakis, N. M., Traeger-Synodinos, J., Ververi, A., Sourmpi, M., Eslahi, A., Khadivi Zand, F., Beiraghi Toosi, M., Babaei, M., Jackson, A., Hannah, M. G., Bugiardini, E., Bertini, E., Kriouile, Y., El-Khorassani, M., Aguennouz, M., Groppa, S., Karashova, B. M., Goraya, J. S., Sultan, T., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Veggiotti, P., Verrotti, A., Lanari, M., Savasta, S., Macaya, A., Garavaglia, B., Borgione, E., Papacostas, S., Vikelis, M., Chelban, V., Kaiyrzhanov, R., Cortese, A., Sullivan, R., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Zuccotti, G. V., Marseglia, G. L., Esposito, S., Shaikh, F., Cogo, P., Corsello, G., Mangano, S., Nardello, R., Mangano, D., Scardamaglia, A., Koutsis, G., Scuderi, C., Ferrara, P., Morello, G., Zollo, M., Berni-Canani, R., Terracciano, L. M., Sisto, A., Di Fabio, S., Strano, F., Scorrano, G.

مصطلحات موضوعية: GREND syndrome, GTPBP1, GTPBP2, NBIA, animal model, ectodermal disorder, neurodegeneration, neurodevelopmental disorder, ribosome stalling, ribosomopathies

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38118446; volume:111; issue:1; firstpage:200; lastpage:210; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; https://hdl.handle.net/11573/1700551Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85180561163

الإتاحة: https://doi.org/10.1016/j.ajhg.2023.11.012Test
https://hdl.handle.net/11573/1700551Test

المؤلفون: Ceravolo, G, Zhelcheska, K, Squadrito, V, Pellerin, D, Gitto, E, Hartley, L, Houlden, H

المصدر: Journal of Neurology (2023) (In press).

مصطلحات موضوعية: Genetic testing, Leukodystrophy, Trials

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10179603/1/s00415-023-11996-5.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10179603Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10179603/1/s00415-023-11996-5.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10179603Test/

المؤلفون: Palmas G., Trapani S., Agosti M., Alberti I., Aricò M., Azzari C., Bresesti I., Bressan S., Caselli D., Cazzato S., Da Dalt L., Felici E., Garazzino S., Giannattasio A., Iudica G., Lanari M., Marchisio P., Martelli G., Milani G. P., Soro F., Piccotti E., Tirelli F., Resti M., Indolfi G., Gitto E., Ricci S.

المساهمون: Palmas, G., Trapani, S., Agosti, M., Alberti, I., Aricò, M., Azzari, C., Bresesti, I., Bressan, S., Caselli, D., Cazzato, S., Da Dalt, L., Felici, E., Garazzino, S., Giannattasio, A., Iudica, G., Lanari, M., Marchisio, P., Martelli, G., Milani, G. P., Soro, F., Piccotti, E., Tirelli, F., Resti, M., Indolfi, G., Gitto, E., Ricci, S.

مصطلحات موضوعية: RSV, adenoviru, influenza, respiratory syncytial viru, rhinovirus

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/38309520; info:eu-repo/semantics/altIdentifier/wos/WOS:001203326200001; volume:268; journal:THE JOURNAL OF PEDIATRICS; https://hdl.handle.net/11383/2170871Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85186094385

الإتاحة: https://doi.org/10.1016/j.jpeds.2024.113932Test
https://hdl.handle.net/11383/2170871Test

المؤلفون: Pozzi N., Cogo P., Moretti C., Biban P., Fedeli T., Orfeo L., Gitto E., Mosca F.

المساهمون: Pozzi, N., Cogo, P., Moretti, C., Biban, P., Fedeli, T., Orfeo, L., Gitto, E., Mosca, F.

مصطلحات موضوعية: Early childhood intensive care units (ECICUs), Management of critically ill infants and toddler, Neonatal intensive care units (NICUs), Neonatologist, Paediatric critical care medicine (PCCM), Paediatric intensive care units (PICUs)

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000747664900001; journal:EUROPEAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11390/1220675Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85123929212

الإتاحة: https://doi.org/10.1007/s00431-021-04349-9Test
http://hdl.handle.net/11390/1220675Test

المؤلفون: Calì, E, Lin, SJ, Rocca, C, Sahin, Y, Al Shamsi, A, El Chehadeh, S, Chaabouni, M, Mankad, K, Galanaki, E, Efthymiou, S, Sudhakar, S, Athanasiou-Fragkouli, A, Çelik, T, Narlı, N, Bianca, S, Murphy, D, De Carvalho Moreira, FM, Hannah, MG, Bugiardini, E, Kriouile, Y, El Khorassani, M, Aguennouz, M, Groppa, S, Karashova, BM, Di Rosa, G, Goraya, JS, Sultan, T, Avdjieva, D, Kathom, H, Tincheva, R, Banu, S, Veggiotti, P, Verrotti, A, Savasta, S, Ruiz, AM, Garavaglia, B, Borgione, E, Papacostas, S, Compagnoni, C, Piccirilli, A, Vikelis, M, Chelban, V, Kaiyrzhanov, R, Cortese, A, Sullivan, R, Papanicolaou, EZ, Dardiotis, E, Maqbool, S, Ibrahim, S, Kirmani, S, Rana, NN, Atawneh, O, Lim, SY, Shaikh, F, Scardamaglia, A, Koutsis, G, Mangano, S, Scuderi, C, Morello, G, Zollo, M, Heimer, G, Striano, P, Al-Khawaja, I, Al-Mutairi, F, Alkuraya, FS, Rizig, M, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Xiromerisiou, G, Spanaki, C, Tucci, A, Fiorillo, C, Rissotto, F, Munell, F, Gagliano, A, Jan, F, Chimenz, R, Gitto, E, Cuppari, C, Romeo, C, Magrinelli, F, Gupta, N, Kabra, M, Benrhouma, H, Tazir, M, Zagaroli, L, Caloisi, C, Fabiano, C, Bottone, G, Farello, G, Di Fabio, S, Obeid, M, Bakhtadze, S, Saadi, NW

المصدر: Genetics in Medicine (2022) (In press).

مصطلحات موضوعية: Human mediator complex, MED11, MEDopathies

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10155099Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10155099/1/Rizig_A%20homozygous%20MED11%20C-terminal%20variant%20causes%20a%20lethal%20neurodegenerative%20disease_VoR.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10155099Test/

المؤلفون: D'Onofrio, G, Riva, A, Di Rosa, G, Cali', E, Efthymiou, S, Gitto, E, Madia, F, Accogli, A, Zara, F, Houlden, H, Salpietro, V, Striano, P, Soler, D

المصدر: Brain and Development , 44 (7) pp. 469-473. (2022)

مصطلحات موضوعية: GABBR2 (Gamma-Aminobutyric acid Type B Receptor Subunit 2), Dystonia, Exome sequencing, Early infantile epileptic encephalopathy, Rett syndrome (3 to 9 max)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10148411/2/Houlden_Paroxysmal%20limb%20dystonias%20associated%20with%20GABBR2%20pathogenic%20variant_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10148411Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10148411/2/Houlden_Paroxysmal%20limb%20dystonias%20associated%20with%20GABBR2%20pathogenic%20variant_AAM.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10148411Test/

المؤلفون: Comoretto R. I., Azzolina D., Amigoni A., Stoppa G., Todino F., Wolfler A., Gregori D., Racca F., Simonini A., Caramelli F., Vigna G., Stancanelli G., L'Erario M., Moscatelli A., Gitto E., Izzo F., Montani C., Marinosci G. Z., Osello R., Pettenazzo A., Alaimo N., Cecchetti C., Dotta A., Perrotta D., Rossetti E., Picconi E., Maiolo G., Savron F., Biban P., Zanonato E., Lanera C., Lorenzoni G., Nasato L., Ocagli H.

المساهمون: Comoretto R.I., Azzolina D., Amigoni A., Stoppa G., Todino F., Wolfler A., Gregori D., Racca F., Simonini A., Caramelli F., Vigna G., Stancanelli G., L'Erario M., Moscatelli A., Gitto E., Izzo F., Montani C., Marinosci G.Z., Osello R., Pettenazzo A., Alaimo N., Cecchetti C., Dotta A., Perrotta D., Rossetti E., Picconi E., Maiolo G., Savron F., Biban P., Zanonato E., Lanera C., Lorenzoni G., Nasato L., Ocagli H.

مصطلحات موضوعية: Hemodynamic failure, Imbalance management, Machine learning technique, Outcome prediction, Picu

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34359385; info:eu-repo/semantics/altIdentifier/wos/WOS:000676246000001; volume:11; issue:7; firstpage:1299; lastpage:1308; numberofpages:10; journal:DIAGNOSTICS; http://hdl.handle.net/2318/1843825Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111931339

الإتاحة: https://doi.org/10.3390/diagnostics11071299Test
http://hdl.handle.net/2318/1843825Test

المؤلفون: Bianchi L., Sframeli M., Vantaggiato L., Vita G. L., Ciranni A., Polito F., Oteri R., Gitto E., Di Giuseppe F., Angelucci S., Versaci A., Messina S., Vita G., Bini L., Aguennouz M.

المساهمون: Bianchi, L., Sframeli, M., Vantaggiato, L., Vita, G. L., Ciranni, A., Polito, F., Oteri, R., Gitto, E., Di Giuseppe, F., Angelucci, S., Versaci, A., Messina, S., Vita, G., Bini, L., Aguennouz, M.

مصطلحات موضوعية: Apolipoprotein A1, Apolipoprotein E, ASO, Carbonyl group, Haptoglobin, Neuromuscular disease, Nusinersen, Oxidized protein, Spinal muscular atrophy type 1, Survival motor neuron (SMN), Transthyretin

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000650376400001; volume:22; issue:9; numberofpages:29; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11365/1198063Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85104421614; https://www.mdpi.com/1422-0067/22/9/4329Test

الإتاحة: https://doi.org/10.3390/ijms22094329Test
http://hdl.handle.net/11365/1198063Test
https://www.mdpi.com/1422-0067/22/9/4329Test

المؤلفون: Falsaperla R., Mauceri L., Motta M., Piro E., D'Angelo G., Gitto E., Corsello G., Ruggieri M.

المساهمون: Falsaperla R., Mauceri L., Motta M., Piro E., D'Angelo G., Gitto E., Corsello G., Ruggieri M.

مصطلحات موضوعية: neonatal brain monitoring neurocritical care

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34426771; info:eu-repo/semantics/altIdentifier/wos/WOS:000687412400001; volume:2021; numberofpages:9; journal:CRITICAL CARE RESEARCH AND PRACTICE; http://hdl.handle.net/10447/536378Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85113585647

الإتاحة: https://doi.org/10.1155/2021/1782406Test
http://hdl.handle.net/10447/536378Test

المؤلفون: Cavallin F., Doglioni N., Allodi A., Battajon N., Vedovato S., Capasso L., Gitto E., Laforgia N., Paviotti G., Capretti M. G., Gizzi C., Villani P. E., Biban P., Pratesi S., Lista G., Ciralli F., Soffiati M., Staffler A., Baraldi E., Trevisanuto D.

المساهمون: Cavallin, F., Doglioni, N., Allodi, A., Battajon, N., Vedovato, S., Capasso, L., Gitto, E., Laforgia, N., Paviotti, G., Capretti, M. G., Gizzi, C., Villani, P. E., Biban, P., Pratesi, S., Lista, G., Ciralli, F., Soffiati, M., Staffler, A., Baraldi, E., Trevisanuto, D.

مصطلحات موضوعية: neonatology, resuscitation

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33597230; info:eu-repo/semantics/altIdentifier/wos/WOS:000711063200002; firstpage:fetalneonatal-2020-320567; journal:ARCHIVES OF DISEASE IN CHILDHOOD. FETAL AND NEONATAL EDITION; http://hdl.handle.net/11577/3394007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100874406

الإتاحة: https://doi.org/10.1136/archdischild-2020-320567Test
http://hdl.handle.net/11577/3394007Test