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1دورية أكاديمية
المؤلفون: Deng, RuizhiAff1, Aff2, Medico-Salsench, Eva, Nikoncuk, Anita, Ramakrishnan, Reshmi, Lanko, Kristina, Kühn, Nikolas A., van der Linde, Herma C., Lor-Zade, Sarah, Albuainain, Fatimah, Shi, Yuwei, Yousefi, SoheilAff1, Aff2, Capo, Ivan, van den Herik, Evita Medici, van Slegtenhorst, Marjon, van Minkelen, Rick, Geeven, GeertAff1, Aff2, Mulder, Monique T., Ruijter, George J. G., Lütjohann, Dieter, Jacobs, Edwin H., Houlden, Henry, Pagnamenta, Alistair T., Metcalfe, KayAff11, Aff12, Jackson, AdamAff11, Aff12, Banka, SiddharthAff11, Aff12, De Simone, Lenika, Schwaede, Abigail, Kuntz, Nancy, Palculict, Timothy Blake, Abbas, Safdar, Umair, MuhammadAff16, Aff17, AlMuhaizea, Mohammed, Colak, Dilek, AlQudairy, Hanan, Alsagob, MaysoonAff20, Aff21, Pereira, Catarina, Trunzo, Roberta, Karageorgou, Vasiliki, Bertoli-Avella, Aida M., Bauer, Peter, Bouman, Arjan, Hoefsloot, Lies H.Aff1, Aff2, van Ham, Tjakko J.Aff1, Aff2, Issa, Mahmoud, Zaki, Maha S., Gleeson, Joseph G., Willemsen, Rob, Kaya, Namik, Arold, Stefan T.Aff3, Aff25, Maroofian, Reza, Sanderson, Leslie E., Barakat, Tahsin StefanAff1, Aff2, Aff26, Aff27, IDs00401023025799_cor52
المصدر: Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. :1-16
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2دورية أكاديمية
المؤلفون: Moussally, Moustafa, GamalEldin, Maysoon M., Lapinski, James E., Willner, Kathryn, Trunzo, Joseph A., Champagne, Bradley J., Ban, Kristen A., Steele, Scott R., Liska, David, Gorgun, Emre, Rosen, David R.
المصدر: In The American Journal of Surgery June 2024
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3دورية أكاديمية
المؤلفون: Spencer-Wood, Suzanne M.Aff1, IDs11759022094425_cor1, Trunzo, Jennifer M. Cantú
المصدر: Archaeologies: Journal of the World Archaeological Congress. 18(1):1-44
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4دورية أكاديمية
المؤلفون: Trunzo, Jennifer M. CantúAff1, IDs11759022094381_cor1, Needham, Maggie
المصدر: Archaeologies: Journal of the World Archaeological Congress. 18(1):260-286
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5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل. -
6دورية أكاديمية
Alternate Title: El alelo HLA-B*51 se asoció fuertemente a la Enfermedad de Behçet en la población argentina (Spanish; Castilian)
المؤلفون: Muñoz, Sebastián Andrés, Orden, Alberto Omar, Kostianovsky, Alex, Pisoni, Cecilia N., Scolnik, Marina, Luissi, Aurelia, Bottinelli, Yanina, Vijoditz, Gustavo, Garcia, Mercedes, Pena, Claudia, Pera, Mariana, Rillo, Oscar, Alvarellos, Teresita, Más, Luciana M., Trunzo, Arturo Luis, Allievi, Alberto
المصدر: In Reumatología clínica (English Edition) July-August 2020 16(4):282-285
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7دورية أكاديمية
المؤلفون: Strickler, Amy (ORCID
0000-0002-5318-4523 ), Trunzo, Annette C., Kaelin, Michael S.المصدر: Child & Youth Care Forum. Feb 2018 47(1):61-79.
Peer Reviewed: Y
Page Count: 19
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8دورية أكاديمية
المؤلفون: Noonan, Anne M., Schnell, Patrick, Trunzo, Danielle, Thornton, Wendy, Malalur, Pannaga G., Manne, Ashish, Abushahin, Laith I., Rahman, Shafia, Jin, Ning, Hays, John L., Elkhatib, Rifat T., Mittra, Arjun, Roychowdhury, Sameek, Lustberg, Maryam B., Sparreboom, Alex, Hu, Shuiying
المصدر: Journal of Clinical Oncology; 2024 Supplement 3, Vol. 42, p745-745, 42p
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9
المؤلفون: Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
المساهمون: Clinical Genetics, Neurology, Internal Medicine
المصدر: AMFR consortium, Deng, R, Medico-Salsench, E, Nikoncuk, A, Ramakrishnan, R, Lanko, K, Kühn, N A, van der Linde, H C, Lor-Zade, S, Albuainain, F, Shi, Y, Yousefi, S, Capo, I, van den Herik, E M, van Slegtenhorst, M, van Minkelen, R, Geeven, G, Mulder, M T, Ruijter, G J G, Lütjohann, D, Jacobs, E H, Houlden, H, Pagnamenta, A T, Metcalfe, K, Jackson, A, Banka, S, De Simone, L, Schwaede, A, Kuntz, N, Palculict, T B, Abbas, S, Umair, M, AlMuhaizea, M, Colak, D, AlQudairy, H, Alsagob, M, Pereira, C, Trunzo, R, Karageorgou, V, Bertoli-Avella, A M, Bauer, P, Bouman, A, Hoefsloot, L H, van Ham, T J, Issa, M, Zaki, M S, Gleeson, J G, Willemsen, R, Kaya, N, Arold, S T & Maroofian, R 2023, ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ', Acta Neuropathologica, vol. 146, no. 2, pp. 353-368 . https://doi.org/10.1007/s00401-023-02579-9
Acta Neuropathologica. Springer-Verlagمصطلحات موضوعية: Cellular and Molecular Neuroscience, AMFR, Zebrafish disease modeling, Neurology, Whole genome sequencing, Precision medicine, Genetics, Hereditary spastic paraplegia, Cholesterol metabolism, Statin, Neurology (clinical), Pathology and Forensic Medicine
وصف الملف: application/pdf
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10دورية أكاديمية
المؤلفون: Paola Lanuti, Pasquale Simeone, Gianluca Rotta, Camillo Almici, Giuseppe Avvisati, Rosa Azzaro, Giuseppina Bologna, Alfredo Budillon, Melania Di Cerbo, Elena Di Gennaro, Maria Luisa Di Martino, Annamaria Diodato, Paolo Doretto, Eva Ercolino, Alessandra Falda, Chiara Gregorj, Alessandra Leone, Francesca Losa, Natalia Malara, Mirella Marini, Pasquale Mastroroberto, Vincenzo Mollace, Michele Morelli, Emma Muggianu, Giuseppe Musolino, Arabella Neva, Laura Pierdomenico, Silvia Pinna, Giovanna Piovani, Maria Serena Roca, Domenico Russo, Lorenza Scotti, Maria Cristina Tirindelli, Valentina Trunzo, Roberta Venturella, Carlo Vitagliano, Fulvio Zullo, Marco Marchisio, Sebastiano Miscia
المصدر: Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322