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1دورية أكاديمية
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
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2دورية أكاديمية
المؤلفون: Isfaoun, Z., Kili, A., Drief, Ch., Lakhrissi, M., El Ansari, N., El Kababri, M., Hessissen, L., El Khorassani, M.
المصدر: Journal of Taibah University Medical Sciences ; volume 18, issue 6, page S24-S25 ; ISSN 1658-3612
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.jtumed.2023.10.066Test
https://api.elsevier.com/content/article/PII:S1658361223002184?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1658361223002184?httpAccept=text/plainTest -
3دورية أكاديمية
المؤلفون: El Ansari, N., Kili, A., Isfaoun, Z., Drief, Ch., Lakhrissi, M., El kababri, M, Hessissen, L., El khorassani, M
المصدر: Journal of Taibah University Medical Sciences ; volume 18, issue 6, page S12 ; ISSN 1658-3612
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.jtumed.2023.10.034Test
https://api.elsevier.com/content/article/PII:S165836122300183X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S165836122300183X?httpAccept=text/plainTest -
4دورية أكاديمية
المؤلفون: Lakhrissi, M., El kababri, M., Isfaoun, Z., Drief, Ch., El ansari, N., Kili, A., El khorassani, M.
المصدر: Journal of Taibah University Medical Sciences ; volume 18, issue 6, page S11 ; ISSN 1658-3612
مصطلحات موضوعية: General Medicine
الإتاحة: https://doi.org/10.1016/j.jtumed.2023.10.032Test
https://api.elsevier.com/content/article/PII:S1658361223001816?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1658361223001816?httpAccept=text/plainTest -
5دورية أكاديمية
المؤلفون: Coffin, Donna, Gouider, Emma, Konkle, Barbara, Hermans, Cedric, Lambert, Catherine, Diop, Saliou, Ayoub, Emily, Tootoonchian, Ellia, Youttananukorn, Toong, Dakik, Pamela, Pereira, Ticiana, Iorio, Alfonso, Pierce, Glenn F., Abdel Mohsen, M., Adeyemo, T., Ai Sim, G., Al-Rahal, N., Alexis, C., Ali, T., Awodu, O., Aysarieva, B., Aziz, A., Barsallo, N., Biswas, A., Blair, A., Blatny, J., Borhany, M., Castillo, D., Catarino, C., Chuansumrit, A., Coetzee, M., Darwish Mohamad Ibrahim, A., Diop, S., Djenouni, A., El Ekiaby, A., El Khorassani, M., Fawcett, K., Ganieva, A., Govindan, S., Gwarzo, D., Hailemariam, S., Harper, P., Hassan, T., Hassan, M., Hermans, C., Hernandez, F., Imran, A., John, J., Keikhaei, B., Kotila, T.
المساهمون: F Hoffmann-La Roche Ltd, Grifols International, Sanofi US, Bayer Inc, CSL Behring LLC, Pfizer Inc, Takeda Pharmaceutical Co Ltd, Novo Nordisk AS, Sobi
المصدر: Research and Practice in Thrombosis and Haemostasis ; volume 7, issue 8, page 102264 ; ISSN 2475-0379
مصطلحات موضوعية: Hematology
الإتاحة: https://doi.org/10.1016/j.rpth.2023.102264Test
https://api.elsevier.com/content/article/PII:S2475037923056923?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2475037923056923?httpAccept=text/plainTest -
6دورية أكاديمية
المصدر: Research and Practice in Thrombosis and Haemostasis ; volume 7, page 101262 ; ISSN 2475-0379
مصطلحات موضوعية: Hematology
الإتاحة: https://doi.org/10.1016/j.rpth.2023.101262Test
https://api.elsevier.com/content/article/PII:S2475037923045314?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2475037923045314?httpAccept=text/plainTest -
7دورية أكاديمية
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/
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8دورية أكاديمية
المؤلفون: Salpietro V., Malintan N. T., Llano-Rivas I., Spaeth C. G., Efthymiou S., Striano P., Vandrovcova J., Cutrupi M. C., Chimenz R., David E., Di Rosa G., Marce-Grau A., Raspall-Chaure M., Martin-Hernandez E., Zara F., Minetti C., Kriouile Y., El Khorassani M., Aguennouz M., Karashova B., Avdjieva D., Kathom H., Tincheva R., Van Maldergem L., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Pironti E., Goraya J. S., Sultan T., Kirmani S., Ibrahim S., Jan F., Mine J., Banu S., Veggiotti P., Ferrari M. D., Verrotti A., Marseglia G. L., Savasta S., Garavaglia B., Scuderi C., Borgione E., Dipasquale V., Portaro S., Sanchez B. M., Pineda-Marfa M., Munell F., Macaya A., Boles R., Heimer G., Papacostas S., Manole A., Malintan N., Zanetti M. N., Hanna M. G., Rothman J. E., Kullmann D. M., Houlden H., Bello O. D., De Zorzi R., Fortuna S., Dauber A., Alkhawaja M., Mankad K., Vitobello A., Thomas Q., Mau-Them F. T., Faivre L., Martinez-Azorin F., Prada C. E., Krishnakumar S. S.
المساهمون: Salpietro, V., Malintan, N. T., Llano-Rivas, I., Spaeth, C. G., Efthymiou, S., Striano, P., Vandrovcova, J., Cutrupi, M. C., Chimenz, R., David, E., Di Rosa, G., Marce-Grau, A., Raspall-Chaure, M., Martin-Hernandez, E., Zara, F., Minetti, C., Kriouile, Y., El Khorassani, M., Aguennouz, M., Karashova, B., Avdjieva, D., Kathom, H., Tincheva, R., Van Maldergem, L., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Pironti, E., Goraya, J. S., Sultan, T., Kirmani, S., Ibrahim, S., Jan, F., Mine, J., Banu, S., Veggiotti, P., Ferrari, M. D., Verrotti, A., Marseglia, G. L., Savasta, S., Garavaglia, B., Scuderi, C., Borgione, E., Dipasquale, V., Portaro, S., Sanchez, B. M., Pineda-Marfa, M., Munell, F., Macaya, A., Boles, R., Heimer, G., Papacostas, S., Manole, A., Malintan, N., Zanetti, M. N., Hanna, M. G., Rothman, J. E., Kullmann, D. M., Houlden, H., Bello, O. D., De Zorzi, R., Fortuna, S., Dauber, A., Alkhawaja, M., Mankad, K., Vitobello, A., Thomas, Q., Mau-Them, F. T., Faivre, L., Martinez-Azorin, F., Prada, C. E., Krishnakumar, S. S.
مصطلحات موضوعية: autism, epilepsy, movement disorder, neurodevelopmental disorder, neuronal exocytosi, SNARE, synaptobrevin, synaptopathy, VAMP2, vesicle fusion
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30929742; info:eu-repo/semantics/altIdentifier/wos/WOS:000463474700012; volume:104; issue:4; firstpage:721; lastpage:730; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; info:eu-repo/grantAgreement/EC/FP7/2012-305121; http://hdl.handle.net/11368/2945858Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85063684737; http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest
الإتاحة: https://doi.org/10.1016/j.ajhg.2019.02.016Test
http://hdl.handle.net/11368/2945858Test
http://www.elsevier.com/wps/find/journaldescription.cws_home/713561/description#descriptionTest -
9دورية أكاديمية
المؤلفون: Efthymiou S., Salpietro V., Malintan N., Poncelet M., Kriouile Y., Fortuna S., De Zorzi R., Payne K., Henderson L. B., Cortese A., Maddirevula S., Alhashmi N., Wiethoff S., Ryten M., Botia J. A., Provitera V., Schuelke M., Vandrovcova J., Walsh L., Torti E., Iodice V., Najafi M., Karimiani E. G., Maroofian R., Siquier-Pernet K., Boddaert N., De Lonlay P., Cantagrel V., Aguennouz M., El Khorassani M., Schmidts M., Alkuraya F. S., Edvardson S., Nolano M., Devaux J., Houlden H., Groppa S., Karashova B. M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Goraya J. S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M. D., Van Den Maagdenberg A. M. J. M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A. M., Garavaglia B., Borgione E., Portaro S., Sanchez B. M., Boles R., Papacostas S., Vikelis M., Rothman J., Kullmann D., Papanicolaou E. Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N. N., Atawneh O., Lim S. -Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y. A., Minetti C., Al-Khawaja I., Al-Mutairi F., Hamed S., Pipis M., Bettencourt C., Rinaldi S.
المساهمون: Efthymiou S., Salpietro V., Malintan N., Poncelet M., Kriouile Y., Fortuna S., De Zorzi R., Payne K., Henderson L.B., Cortese A., Maddirevula S., Alhashmi N., Wiethoff S., Ryten M., Botia J.A., Provitera V., Schuelke M., Vandrovcova J., Walsh L., Torti E., Iodice V., Najafi M., Karimiani E.G., Maroofian R., Siquier-Pernet K., Boddaert N., De Lonlay P., Cantagrel V., Aguennouz M., El Khorassani M., Schmidts M., Alkuraya F.S., Edvardson S., Nolano M., Devaux J., Houlden H., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Van Den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Kullmann D., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Minetti C., Al-Khawaja I., Al-Mutairi F., Hamed S., Pipis M., Bettencourt C., Rinaldi S.
مصطلحات موضوعية: Neurodevelopment, Neurofascin, Peripheral demyelination, Settore MED/39 - Neuropsichiatria Infantile
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31501903; info:eu-repo/semantics/altIdentifier/wos/WOS:000504322300013; volume:142; issue:10; firstpage:2948; lastpage:2964; numberofpages:17; journal:BRAIN; http://hdl.handle.net/10447/407134Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85072849162
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10دورية أكاديمية
المؤلفون: Efthymiou, S, Kriouile, Y, Salpietro, V, Hajar, R, Ghizlane, Z, Mankad, K, El Khorassani, M, Aguennouz, M, Houlden, H, Wiethoff, S
المصدر: Journal of the Neurological Sciences , 410 , Article 116639. (2020)
مصطلحات موضوعية: Brain iron accumulation, Neurodegeneration, PANK2, NBIA, North Africa
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10094645/3/Efthymiou_A%20rare%20PANK2%20deletion%20in%20the%20first%20north%20African%20patient%20affected%20with%20pantothenate%20kinase%20associated%20neurodegeneration_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10094645Test/