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1Academic Journal
المؤلفون: Sharmin , Sifat, Roos, Izanne, Simpson-Yap, Steve, Malpes, Charles, Sanchez, Marina M., Ozakbas, Serkan, Horakova, Dana, Havrdova, Eva K., Patti, Francesco, Alroughani, Raed, Izquierdo, Guillermo, Eichau, Sara, Boz, Cavit, Zakaria, Magd, Onofrj, Marco, Lugaresi, Alessandra, Weinstock-Guttman, Bianca, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Terzi, Murat, Amato, Maria Pia, Karabudak, Rana, Grand'Maison, Francois, Khoury, Samia J., Grammond, Pierre, Lechner-Scott, Jeannette, Buzzard, Katherine, Skibina, Olga, van der Walt, Anneke, Butzkueven, Helmut, Turkoglu, Recai, Altintas, Ayse, Maimone, Davide, Kermode, Allan, Shalaby, Nevin, Pesch, Vincent V., Butler, Ernest, Sidhom, Youssef, Gouider, Riadh, Mrabet, Saloua, Gerlach, Oliver, Soysal, Aysun, Barnett, Michael, Kuhle, Jens, Hughes, Stella, Sa, Maria J., Hodgkinson, Suzanne, Oreja-Guevara, Celia, Ampapa, Radek, Petersen, Thor, Ramo-Tello, Cristina, Spitaleri, Daniele, McCombe, Pamela, Taylor, Bruce, Prevost, Julie, Foschi, Matteo, Slee, Mark, McGuigan, Chris, Laureys, Guy, Hijfte, Liesbeth V., de Gans, Koen, Solaro, Claudio, Oh, Jiwon, Macdonell, Richard, Aguera-Morales, Eduardo, Singhal, Bhim, Gray, Orla, Garber, Justin, VAN WIJMEERSCH, Bart, Simu, Mihaela, Castillo-Trivino, Tamara, Sanchez-Menoyo, Jose L., Khurana, Dheeraj, Al-Asmi, Abdullah, Al-Harbi, Talal, Deri, Norma, Fragoso, Yara, Lalive, Patrice H., Sinnige, L. G. F., Shaw, Cameron, Shuey, Neil, Csepany, Tunde, Sempere, Angel P., Moore, Fraser, Decoo, Danny, Willekens, Barbara, Gobbi, Claudio, Massey, Jennifer, Hardy, Todd, Parratt, John, Kalincik, Tomas
المساهمون: Lugaresi, Alessandra/0000-0003-2902-5589, Foschi, Matteo/0000-0002-0321-7155, Malpas, Charles/0000-0003-0534-3718, Roos, Izanne/0000-0003-0371-3666, Sharmin , Sifat, Roos, Izanne, Simpson-Yap, Steve, Malpes, Charles, Sanchez, Marina M., Ozakbas, Serkan, Horakova, Dana, Havrdova, Eva K., Patti, Francesco, Alroughani, Raed, Izquierdo, Guillermo, Eichau, Sara, Boz, Cavit, Zakaria, Magd, Onofrj, Marco, Lugaresi, Alessandra, Weinstock-Guttman, Bianca, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Terzi, Murat, Amato, Maria Pia, Karabudak, Rana, Grand'Maison, Francois, Khoury, Samia J., Grammond, Pierre, Lechner-Scott, Jeannette, Buzzard, Katherine, Skibina, Olga, van der Walt, Anneke, Butzkueven, Helmut, Turkoglu, Recai, Altintas, Ayse, Maimone, Davide, Kermode, Allan, Shalaby, Nevin, Pesch, Vincent V., Butler, Ernest, Sidhom, Youssef, Gouider, Riadh, Mrabet, Saloua, Gerlach, Oliver, Soysal, Aysun, Barnett, Michael, Kuhle, Jens, Hughes, Stella, Sa, Maria J., Hodgkinson, Suzanne, Oreja-Guevara, Celia, Ampapa, Radek, Petersen, Thor, Ramo-Tello, Cristina, Spitaleri, Daniele, McCombe, Pamela, Taylor, Bruce, Prevost, Julie, Foschi, Matteo, Slee, Mark, McGuigan, Chris, Laureys, Guy, Hijfte, Liesbeth V., de Gans, Koen, Solaro, Claudio, Oh, Jiwon, Macdonell, Richard, Aguera-Morales, Eduardo, Singhal, Bhim, Gray, Orla, Garber, Justin, VAN WIJMEERSCH, Bart, Simu, Mihaela, Castillo-Trivino, Tamara, Sanchez-Menoyo, Jose L., Khurana, Dheeraj, Al-Asmi, Abdullah, Al-Harbi, Talal, Deri, Norma, Fragoso, Yara, Lalive, Patrice H., Sinnige, L. G. F., Shaw, Cameron, Shuey, Neil, Csepany, Tunde, Sempere, Angel P., Moore, Fraser, Decoo, Danny, Willekens, Barbara, Gobbi, Claudio, Massey, Jennifer, Hardy, Todd, Parratt, John, Kalincik, Tomas
مصطلحات موضوعية: secondary progressive multiple sclerosis, disease-modifying therapy, latitude, geography, health expenditure
وصف الملف: application/pdf
Relation: BRAIN, 146 (11), p. 4633–4644; http://hdl.handle.net/1942/41603; 4644; 11; 4633; 146; 001063488100001
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2Academic Journal
المؤلفون: Sharmin, Sifat, Roos, Izanne, Simpson-Yap, Steve, Malpas, Charles, Sánchez, Marina M., Ozakbas, Serkan, Horakova, Dana, Havrdova, Eva K., Patti, Francesco, Alroughani, Raed, Izquierdo, Guillermo, Eichau, Sara, Boz, Cavit, Zakaria, Magd, Onofrj, Marco, Lugaresi, Alessandra, Weinstock-Guttman, Bianca, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Terzi, Murat, Amato, Maria Pia, Karabudak, Rana, Grand'Maison, Francois, Khoury, Samia J., Grammond, Pierre, Lechner-Scott, Jeannette, Buzzard, Katherine, Skibina, Olga, van der Walt, Anneke, Butzkueven, Helmut, Turkoglu, Recai, Altintas, Ayse, Maimone, Davide, Kermode, Allan, Shalaby, Nevin, Pesch, Vincent V., Butler, Ernest, Sidhom, Youssef, Gouider, Riadh, Mrabet, Saloua, Gerlach, Oliver, Soysal, Aysun, Barnett, Michael, Kuhle, Jens, Hughes, Stella, Sa, Maria J., Hodgkinson, Suzanne, Oreja-Guevara, Celia, Ampapa, Radek, Petersen, Thor, Ramo-Tello, Cristina, Spitaleri, Daniele, McCombe, Pamela, Taylor, Bruce, Prevost, Julie, Foschi, Matteo, Slee, Mark, McGuigan, Chris, Laureys, Guy, Hijfte, Liesbeth V., de Gans, Koen, Solaro, Claudio, Oh, Jiwon, Macdonell, Richard, Aguera-Morales, Eduardo, Singhal, Bhim, Gray, Orla, Garber, Justin, Wijmeersch, Bart V., Simu, Mihaela, Triviño, Tamara C., Sanchez-Menoyo, Jose L., Khurana, Dheeraj, Al-Asmi, Abdullah, Al-Harbi, Talal, Deri, Norma, Lalive, Patrice H., Sinnige, L.G.F., Shaw, Cameron, Shuey, Neil, Csepany, Tunde, Sempere, Angel P., Moore, Fraser, Decoo, Danny, Willekens, Barbara, Gobbi, Claudio, Massey, Jennifer, Hardy, Todd, Parratt, John, Kalincik, Tomas
المساهمون: MSBase investigators
المصدر: 0006-8950 ; Brain
مصطلحات موضوعية: Human medicine
Relation: info:eu-repo/semantics/altIdentifier/isi/001063488100001
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3Academic Journal
المؤلفون: Kalincik, Tomas, Kister, Ilya, Bacon, Tamar E, Malpas, Charles B, Sharmin, Sifat, Horakova, Dana, Kubala-Havrdova, Eva, Patti, Francesco, Izquierdo, Guillermo, Eichau, Sara, Ozakbas, Serkan, Onofrj, Marco, Lugaresi, Alessandra, Prat, Alexandre, Girard, Marc, Duquette, Pierre, Grammond, Pierre, Sola, Patrizia, Ferraro, Diana, Alroughani, Raed, Terzi, Murat, Boz, Cavit, Grand'Maison, Francois, Bergamaschi, Roberto, Gerlach, Oliver, Sa, Maria J, Kappos, Ludwig, Cartechini, Elisabetta, Lechner-Scott, Jeannette, Van Pesch, Vincent, Shaygannejad, Vahid, Granella, Franco, Spitaleri, Daniele, Iuliano, Gerardo, Maimone, Davide, Prevost, Julie, Soysal, Aysun, Turkoglu, Recai, Ampapa, Radek, Butzkueven, Helmut, Cutter, Gary, for MSBase Study Group
المساهمون: UCL - SSS/IONS/CEMO - Pôle Cellulaire et moléculaire, UCL - (SLuc) Service de neurologie
المصدر: Multiple sclerosis, Vol. 28, no. 11, p. 1752-1761 (2022)
مصطلحات موضوعية: Adult, Disability Evaluation, Disease Progression, Female, Humans, Male, Middle Aged, Multiple Sclerosis, Prospective Studies, Recurrence, Severity of Illness Index, Multiple Sclerosis Severity Score (MSSS), prognostics, relapse prediction
Relation: boreal:276417; http://hdl.handle.net/2078.1/276417; info:pmid/35373638; urn:ISSN:1352-4585; urn:EISSN:1477-0970
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4Conference
المؤلفون: Yeh, Wei Z, Widyastuti, Putu A, Walt, Anneke Van der, Stankovich, Jim, Havrdova, Eva K, Horakova, Dana, Vodehnalova, Karolina, Ozakbas, Serkan, Eichau, Sara, Duquette, Pierre, Kalincik, Tomas, Patti, Francesco, Boz, Cavit, Terzi, Murat, Yamout, Bassem, Lechner-Scott, Jeannette, Sola, Patrizia, Skibina, Olga, Barnett, Michael, Onofrj, Marco, Sá, Maria J, McCombe, Pamela, Grammond, Pierre, Ampapa, Radek, Grand’Maison, Francois, Bergamaschi, Roberto, Spitaleri, Daniele LA, Pesch, Vincent Van, Cartechini, Elisabetta, Hodgkinson, Suzanne, Soysal, Aysun, Saiz, Albert, Gresle, Melissa, Uher, Tomas, Maimone, Davide, Turkoglu, Recai, Hupperts, Raymond MM, Amato, Maria Pia, Granella, Franco, Oreja-Guevara, Celia, Altintas, Ayse, Macdonell, Richard, Castillo-Trivino, Tamara, Butzkueven, Helmut, Alroughani, Raed, Jokubaitis, Vilija G, Registry, MSBase
المصدر: Oral abstracts ; page A2.1-A2
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5Academic Journal
المؤلفون: Dingemans, Alexander J. M., Stremmelaar, Diante E., Vissers, Lisenka E. L. M., Jansen, Sandra, Nabais Sá, Maria J., van Remortele, Angela, Jonis, Noraly, Truijen, Kim, van de Ven, Sam, Ewals, Jeroen, Verbruggen, Michel, Koolen, David A., Brunner, Han G., Eichler, Evan E., Gecz, Jozef, de Vries, Bert B. A.
المصدر: Dingemans , A J M , Stremmelaar , D E , Vissers , L E L M , Jansen , S , Nabais Sá , M J , van Remortele , A , Jonis , N , Truijen , K , van de Ven , S , Ewals , J , Verbruggen , M , Koolen , D A , Brunner , H G , Eichler , E E , Gecz , J & de Vries , B B A 2021 , ' Human disease genes website series: An international, open and dynamic library for up-to-date clinical information ' ....
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6Academic Journal
المؤلفون: Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
المساهمون: Canadian Institute for Health Research, WIMM Strategic Alliance, National Institute for Health Research
المصدر: Journal of Medical Genetics ; volume 59, issue 8, page 776-780 ; ISSN 0022-2593 1468-6244
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7Academic Journal
المؤلفون: Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean Philippe P., de Vries, Bert B.A.
المساهمون: Genetica, KTO Office, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek
مصطلحات موضوعية: BET protein, craniofacial dysmorphisms, de novo mutation, germ line mutation, intellectual disabilty syndrome, macrocephaly, microcephaly, missense mutation, neurodevelopmental disorder, SPOP, Humans, Child, Preschool, Infant, Male, Mutation, Missense, Young Adult, Facies, Female, Nuclear Proteins/genetics, Repressor Proteins/genetics, Intellectual Disability/genetics, Adolescent, Skull/abnormalities, Neurodevelopmental Disorders/genetics, Genetics(clinical), Genetics, Research Support, Non-U.S. Gov't
وصف الملف: application/pdf
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8Academic Journal
المؤلفون: Nabais Sá, Maria J, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, de Brouwer, Arjan P M, Dinman, Jonathan D, de Vries, Bert B A
المساهمون: Dutch Organization for Health Research and Development, National Institutes of Health
المصدر: Human Molecular Genetics ; volume 29, issue 24, page 3892-3899 ; ISSN 0964-6906 1460-2083
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9Academic Journal
المؤلفون: Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B.A., de Brouwer, Arjan P.M., Koolen, David A.
المصدر: Genetics in Medicine ; volume 22, issue 4, page 797-802 ; ISSN 1098-3600
الاتاحة: http://dx.doi.org/10.1038/s41436-019-0703-y
http://www.nature.com/articles/s41436-019-0703-y.pdf
http://www.nature.com/articles/s41436-019-0703-y
https://api.elsevier.com/content/article/PII:S1098360021011461?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021011461?httpAccept=text/plain -
10Academic Journal
المؤلفون: Nabais Sá, Maria J., Jensik, Philip J., McGee, Stacey R., Parker, Michael J., Lahiri, Nayana, McNeil, Evan P., Kroes, Hester Y., Hagerman, Randi J., Harrison, Rachel E., Montgomery, Tara, Splitt, Miranda, Palmer, Elizabeth E., Sachdev, Rani K., Mefford, Heather C., Scott, Abbey A., Martinez-Agosto, Julian A., Lorenz, Rüdiger, Orenstein, Naama, Berg, Jonathan N., Amiel, Jeanne, Heron, Delphine, Keren, Boris, Cobben, Jan-Maarten, Menke, Leonie A., Marco, Elysa J., Graham, John M., Pierson, Tyler Mark, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Manzini, M. Chiara, Cauley, Edmund S., Colombo, Roberto, Odent, Sylvie, Dubourg, Christele, Phornphutkul, Chanika, de Brouwer, Arjan P. M., de Vries, Bert B. A., Vulto-vanSilfhout, Anneke T
المصدر: Nabais Sá , M J , Jensik , P J , McGee , S R , Parker , M J , Lahiri , N , McNeil , E P , Kroes , H Y , Hagerman , R J , Harrison , R E , Montgomery , T , Splitt , M , Palmer , E E , Sachdev , R K , Mefford , H C , Scott , A A , Martinez-Agosto , J A , Lorenz , R , Orenstein , N , Berg , J N , Amiel , J , Heron , D , ....
مصطلحات موضوعية: DEAF1, genotype, intellectual disability, neurodevelopmental disorder, phenotype, /dk/atira/pure/subjectarea/asjc/2700/2716, name=Genetics(clinical)
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11Academic Journal
المؤلفون: Maia, Nuno, Nabais Sá, Maria J., Tkachenko, Nataliya, Soares, Gabriela, Marques, Isabel, Rodrigues, Bárbara, Fortuna, Ana M., Santos, Rosário, de Brouwer, Arjan P.M., Jorge, Paula
المصدر: Molecular Syndromology ; volume 9, issue 1, page 45-51 ; ISSN 1661-8769 1661-8777
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12Academic Journal
المؤلفون: de Seabra, Mafalda M. L., Abreu, Pedro M. P., Mendonça, Maria T. S., Reis, Joaquim J. C. S., Sá, Maria J. P. M., Guimarães Ferreira Almeida, Joana C.
المصدر: Clinical and Experimental Neuroimmunology ; volume 11, issue 3, page 171-175 ; ISSN 1759-1961 1759-1961
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13Electronic Resource
المؤلفون: Genetica, KTO Office, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Nabais Sá, Maria J., El Tekle, Geniver, de Brouwer, Arjan P.M., Sawyer, Sarah L., del Gaudio, Daniela, Parker, Michael J., Kanani, Farah, van den Boogaard, Marie José H., van Gassen, Koen, Van Allen, Margot I., Wierenga, Klaas, Purcarin, Gabriela, Elias, Ellen Roy, Begtrup, Amber, Keller-Ramey, Jennifer, Bernasocchi, Tiziano, van de Wiel, Laurens, Gilissen, Christian, Venselaar, Hanka, Pfundt, Rolph, Vissers, Lisenka E.L.M., Theurillat, Jean Philippe P., de Vries, Bert B.A.
URL:
https://doi.org/10.1016/j.ajhg.2020.02.001 http://hdl.handle.net/1874/439802 https://dspace.library.uu.nl/handle/1874/439802 http://www.scopus.com/inward/record.url?scp=85080150848&partnerID=8YFLogxK
0002-9297
American Journal of Human Genetics
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14Periodical
المؤلفون: Chien, Claudia, e Silva, Vera Cruz, Geiter, Emanuel, Meier, Dominik, Zimmermann, Hanna, Bichuetti, Denis B., Idagawa, Marcos I., Altintas, Ayse, Tanriverdi, Uygur, Siritho, Sasitorn, Pandit, Lehka, Dcunha, Anitha, Sá, Maria J., Figueiredo, Rita, Qian, Peiqing, Tongco, Caryl, Lotan, Itay, Khasminsky, Vadim, Hellmann, Mark A., Stiebel-Kalish, Hadas, Rotstein, Dalia L., Waxman, Lindsay, Ontaneda, Daniel, Nakamura, Kunio, Abboud, Hesham, Subei, M. Omar, Mao-Draayer, Yang, Havla, Joachim, Asgari, Nasrin, Skejø, Pernille B., Kister, Ilya, Ringelstein, Marius, Broadley, Simon, Arnett, Simon, Marron, Brie, Jolley, Anna M., Wunderlich, Michael, Green, Sean, Cook, Lawrence J., Yeaman, Michael R., Smith, Terry J., Brandt, Alexander U., Wuerfel, Jens, Paul, Friedemann
المصدر: Radiology; November 2024, Vol. 313 Issue: 2
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15Academic Journal
المؤلفون: Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu
المصدر: American Journal of Medical Genetics Part A ; volume 179, issue 9, page 1872-1877 ; ISSN 1552-4825 1552-4833
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16Academic Journal
المؤلفون: Nabais Sa, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurelien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amelie, Vincent, Catherine, Zweier, Christiane, Reis, Andre, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, Van Dooren, Marieke F., Van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michel A., De Vries, Bert B. A., De Brouwer, Arjan P. M., Koolen, David A.
المساهمون: Université de Lille
مصطلحات موضوعية: intellectual disability, neurodevelopmental disorder, CLTC
Relation: Genetics in medicine . official journal of the American College of Medical Genetics; Genet. Med.; http://hdl.handle.net/20.500.12210/55452
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17Periodical
المؤلفون: Nabais Sá, Maria J, Miller, Kerry A, McQuaid, Mary, Koelling, Nils, Wilkie, Andrew O M, Wurtele, Hugo, de Brouwer, Arjan P M, Oliveira, Jorge
المصدر: Journal of Medical Genetics (JMG); 2022, Vol. 59 Issue: 8 p776-780, 5p
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18Academic Journal
المؤلفون: Sá, Maria J Nabais, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, Brouwer, Arjan P M de, Dinman, Jonathan D, Vries, Bert B A de
المصدر: Human Molecular Genetics; Dec2020, Vol. 29 Issue 24, p3892-3899, 8p
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19Academic Journal
المؤلفون: Seabra, Mafalda M. L., Abreu, Pedro M. P., Mendonça, Maria T. S., Reis, Joaquim J. C. S., Sá, Maria J. P. M., Guimarães Ferreira Almeida, Joana C.
المصدر: Clinical & Experimental Neuroimmunology; Aug2020, Vol. 11 Issue 3, p171-175, 5p
مصطلحات موضوعية: MULTIPLE sclerosis, CENTRAL nervous system diseases, DEMYELINATION, OPTIC neuritis, CEREBROVASCULAR disease, MEDICAL records, NEUROMYELITIS optica
مصطلحات جغرافية: PORTO (Portugal)
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20Periodical
المؤلفون: Nabais Sá, Maria J., Venselaar, Hanka, Wiel, Laurens, Trimouille, Aurélien, Lasseaux, Eulalie, Naudion, Sophie, Lacombe, Didier, Piton, Amélie, Vincent-Delorme, Catherine, Zweier, Christiane, Reis, André, Trollmann, Regina, Ruiz, Anna, Gabau, Elisabeth, Vetro, Annalisa, Guerrini, Renzo, Bakhtiari, Somayeh, Kruer, Michael C., Amor, David J., Cooper, Monica S., Bijlsma, Emilia K., Barakat, Tahsin Stefan, van Dooren, Marieke F., van Slegtenhorst, Marjon, Pfundt, Rolph, Gilissen, Christian, Willemsen, Michèl A., de Vries, Bert B. A., de Brouwer, Arjan P. M., Koolen, David A.
المصدر: Genetics in Medicine; April 2020, Vol. 22 Issue: 4 p797-802, 6p