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1دورية أكاديمية
المؤلفون: Weng P. L., Majmundar A. J., Khan K., Lim T. Y., Shril S., Jin G., Musgrove J., Wang M., Ahram D. F., Aggarwal V. S., Bier L. E., Heinzen E. L., Onuchic-Whitford A. C., Mann N., Buerger F., Schneider R., Deutsch K., Kitzler T. M., Klambt V., Kolb A., Mao Y., Moufawad El Achkar C., Mitrotti A., Martino J., Beck B. B., Altmuller J., Benz M. R., Yano S., Mikati M. A., Gunduz T., Cope H., Shashi V., Trachtman H., Bodria M., Caridi G., Pisani I., Fiaccadori E., AbuMaziad A. S., Martinez-Agosto J. A., Yadin O., Zuckerman J., Kim A., John-Kroegel U., Tyndall A. V., Parboosingh J. S., Innes A. M., Bierzynska A., Koziell A. B., Muorah M., Saleem M. A., Hoefele J., Riedhammer K. M., Gharavi A. G., Jobanputra V., Pierce-Hoffman E., Seaby E. G., O'Donnell-Luria A., Rehm H. L., Mane S., D'Agati V. D., Pollak M. R., Ghiggeri G. M., Lifton R. P., Goldstein D. B., Davis E. E., Hildebrandt F., Sanna-Cherchi S.
المساهمون: Weng, P. L., Majmundar, A. J., Khan, K., Lim, T. Y., Shril, S., Jin, G., Musgrove, J., Wang, M., Ahram, D. F., Aggarwal, V. S., Bier, L. E., Heinzen, E. L., Onuchic-Whitford, A. C., Mann, N., Buerger, F., Schneider, R., Deutsch, K., Kitzler, T. M., Klambt, V., Kolb, A., Mao, Y., Moufawad El Achkar, C., Mitrotti, A., Martino, J., Beck, B. B., Altmuller, J., Benz, M. R., Yano, S., Mikati, M. A., Gunduz, T., Cope, H., Shashi, V., Trachtman, H., Bodria, M., Caridi, G., Pisani, I., Fiaccadori, E., Abumaziad, A. S., Martinez-Agosto, J. A., Yadin, O., Zuckerman, J., Kim, A., John-Kroegel, U., Tyndall, A. V., Parboosingh, J. S., Innes, A. M., Bierzynska, A., Koziell, A. B., Muorah, M., Saleem, M. A., Hoefele, J., Riedhammer, K. M., Gharavi, A. G., Jobanputra, V., Pierce-Hoffman, E., Seaby, E. G., O'Donnell-Luria, A., Rehm, H. L., Mane, S., D'Agati, V. D., Pollak, M. R., Ghiggeri, G. M., Lifton, R. P., Goldstein, D. B., Davis, E. E., Hildebrandt, F., Sanna-Cherchi, S.
مصطلحات موضوعية: epilepsy, FSGS, genomic, monogenic, nuclear body, SRNS, TRIM8, Adult, Animal, Carrier Protein, Cell Line, Child, Preschool, Codon, Nonsense, Developmental Disabilitie, Female, Glomerulosclerosis, Focal Segmental, Human, Intranuclear Space, Kidney, Male, Mice, Mutation, Nephrotic Syndrome, Nerve Tissue Protein, Phenotype, Podocyte, Whole Exome Sequencing
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000629135400014; volume:108; issue:2; firstpage:357; lastpage:367; numberofpages:11; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11381/2911490Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100403617
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2دورية أكاديمية
المؤلفون: Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S., Banka, S., Bena, F., Ben-Zeev, B., Bonagura, V., Bruel, A., Brunet, T., Brunner, H., Chew, H., Chrast, J., Cimbalistienė, L., Coon, H., Délot, E., Démurger, F., Denommé-Pichon, A., Depienne, C., Donnai, D., Dyment, D., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M., Miyatake, S., Mizuguchi, T., Moey, L., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R., Stegmann, A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J., Vergano, S., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D., Kleefstra, T., Reymond, A., Fisher, S., Vissers, L.
المساهمون: The DDD study
المصدر: The American Journal of Human Genetics
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/21.11116/0000-0007-623A-ATest; http://hdl.handle.net/21.11116/0000-0007-F4E7-1Test
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3دورية أكاديمية
المؤلفون: Panagiotakaki, E., De Grandis, E., Stagnaro M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC Consortium, French AHC Consortium, International AHC Consortium. Collaborators: Bassi MT, Borgatti R, Cernetti R, Di Rosa G, Franchini F, Gambardella A, Giacanelli M, Giannotta M, Gobbi G, Granata T, De Grandis E, Guerrini R, Gurrieri F, Incorpora G, Nardocci N, Neri G, Ragona F, Santucci M, Sartori S, Stagnaro M, Tiziano D, Vavassori R, Veneselli E, Vigevano F, Zucca C, Aicardi J, An I, Arbues AS, Arzimanoglou A, Bahi- Buisson N, Barthez MA, Billette de Villemeur T, Bourgeois M, Bru M, Chabrol B, Chaigne D, Chaunu MP, Chiron C, Cournelle AM, Davoine CS, De St Martin A, Deny B, Desguerres I, Des Portes V, Doummar D, Dulac O, Dusser A, Gerard M, Gitiaux C, Godet Kiesel I, Gokben S, Goutieres F, Guerrin MH, Heron-Longe B, Hubsch-Bonneaud C, Hully M, Husson M, Ioos Ch, Kaminska A, Laroche C, Lazaro L, Lepine A, Magy L, Marchal C, Michel J, Milh M, Motte J, Moutard ML, Napuri S, Nassogne MC, Neau JP, Nicole S, Panagiotakaki E, Passemard S, Pedespan JM, Penniello- Valette MJ, Poncelin D, Ponsot G, Poulat AL, Pouplard F, Rabilloud M, Riant F, Rivier F, Roelens P, Roubergue A, Sanlaville D, Tardieu M, Veyrieres S, de Grandis E, Fons C, Sisodiya S, de Jonghe P, Goubeau C, van den Maagdenberg AM, Mikati M, Scheffer I, Nevsimalova S, Kemlink D, Krepelova A, Kolnikova M, Sykora P, Kaski J, Hanna M, Houlden H, Ulate-Campos A, Cancho R, Eiris J, López-Laso E, Velázquez R, Carilho I, Ozelius L, Suls A, Ceulemans B, Buyse G, di Michele M, Ferrari M, Peeters-Scholte CM.
المساهمون: Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. L., Doummar, D., Hubsch-Bonneaud, C., Jaffer, F., Cross, H., Gurrieri, F., Tiziano, D., Nevsimalova, S., Nicole, S., Neville, B., van den Maagdenberg, A. M., Mikati, M., Goldstein, D. B., Vavassori, R., Arzimanoglou, A., Italian IBAHC, Consortium, French AHC, Consortium, International AHC Consortium., Collaborators: Bassi MT, Borgatti, R, Cernetti, R, Di Rosa, G, Franchini, F, Gambardella, A, Giacanelli, M, Giannotta, M, Gobbi, G, Granata, T, De Grandis, E, Guerrini, R, Gurrieri, F, Incorpora, G, Nardocci, N, Neri, G, Ragona, F, Santucci, M, Sartori, S, Stagnaro, M, Tiziano, D, Vavassori, R, Veneselli, E, Vigevano, F, Zucca, C, Aicardi, J, An, I, Arbues, A, Arzimanoglou, A, Bahi- Buisson, N, Barthez, Ma, Billette de Villemeur, T, Bourgeois, M, Bru, M, Chabrol, B, Chaigne, D, Chaunu, Mp, Chiron, C, Cournelle, Am, Davoine, C, De St Martin, A, Deny, B, Desguerres, I, Des Portes, V, Doummar, D, Dulac, O, Dusser, A, Gerard, M, Gitiaux, C, Godet Kiesel, I, Gokben, S, Goutieres, F, Guerrin, Mh, Heron-Longe, B, Hubsch-Bonneaud, C, Hully, M, Husson, M, Ioos, Ch, Kaminska, A, Laroche, C, Lazaro, L, Lepine, A, Magy, L, Marchal, C, Michel, J
مصطلحات موضوعية: Alternating hemiplegia of childhood, ATP1A3, Genotype-phenotype
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26410222; info:eu-repo/semantics/altIdentifier/wos/WOS:000361722500001; volume:10; issue:Article number 123; firstpage:1; lastpage:13; numberofpages:13; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11570/3162131Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84942433711; https://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0335-5Test
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4دورية أكاديمية
المؤلفون: Perucca P., Anderson A., Jazayeri D., Hitchcock A., Graham J., Todaro M., Tomson T., Battino D., Perucca E., Ferri M. M., Rochtus A., Lagae L., Canevini M. P., Zambrelli E., Campbell E., Koeleman B. P. C., Scheffer I. E., Berkovic S. F., Kwan P., Sisodiya S. M., Goldstein D. B., Petrovski S., Craig J., Vajda F. J. E., O'Brien T. J., Leu C., Wolking S., Peter S., Weber Y. G., Weckhuysen S., Moller R. S., Nikanorova M., Muhle H., Avbersek A., Heggeli K., Striano P., Gambardella A., Langley S. R., Krenn M., Klein K. M., McCormack M., Borghei M., Willis J., Berghuis B., Jorgensen A., Auce P., Francis B., Srivastava P., Sonsma A. C. M., Sander JW., Zimprich F., Depondt C., Johnson M. M., Marson A. G., Sills G. J., Kunz W. S., Cavalleri G. L., Delanty N., Zara F., Krause R., Lerche H., Andrade D., Sen A., Bazil C. W., Boland M., Cavalleri G., Choi H., Colombo S., Costello D., Devinsky O., Doherty C. P., Dugan P., Frankel W., Heinzen E., Johnson M., Marson T., Mikati M., Ottman R., Pandolfo M., Radtke R., Rees M., Sadoway T., Valley N., Walley N., Wood N., Zuberi S.
المساهمون: Perucca, P., Anderson, A., Jazayeri, D., Hitchcock, A., Graham, J., Todaro, M., Tomson, T., Battino, D., Perucca, E., Ferri, M. M., Rochtus, A., Lagae, L., Canevini, M. P., Zambrelli, E., Campbell, E., Koeleman, B. P. C., Scheffer, I. E., Berkovic, S. F., Kwan, P., Sisodiya, S. M., Goldstein, D. B., Petrovski, S., Craig, J., Vajda, F. J. E., O'Brien, T. J., Leu, C., Wolking, S., Peter, S., Weber, Y. G., Weckhuysen, S., Moller, R. S., Nikanorova, M., Muhle, H., Avbersek, A., Heggeli, K., Striano, P., Gambardella, A., Langley, S. R., Krenn, M., Klein, K. M., Mccormack, M., Borghei, M., Willis, J., Berghuis, B., Jorgensen, A., Auce, P., Francis, B., Srivastava, P., Sonsma, A. C. M., Sander, Jw., Zimprich, F., Depondt, C., Johnson, M. M., Marson, A. G., Sills, G. J., Kunz, W. S., Cavalleri, G. L., Delanty, N., Zara, F., Krause, R., Lerche, H., Andrade, D., Sen, A., Bazil, C. W., Boland, M., Cavalleri, G., Choi, H., Colombo, S., Costello, D., Devinsky, O., Doherty, C. P., Dugan, P., Frankel, W., Heinzen, E., Johnson, M., Marson, T., Mikati, M., Ottman, R., Pandolfo, M., Radtke, R., Rees, M., Sadoway, T., Valley, N., Walley, N., Wood, N., Zuberi, S.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000525780700001; volume:87; firstpage:897; lastpage:906; numberofpages:10; journal:ANNALS OF NEUROLOGY; http://hdl.handle.net/11567/1021849Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85083458002
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5دورية أكاديمية
المؤلفون: Panagiotakaki, E, De Grandis, E, Stagnaro, M, Heinzen, EL, Fons, C, Sisodiya, S, de Vries, B, Goubau, C, Weckhuysen, S, Kemlink, D, Scheffer, I, Lesca, G, Rabilloud, M, Klich, A, Ramirez-Camacho, A, Ulate-Campos, A, Campistol, J, Giannotta, M, Moutard, M-L, Doummar, D, Hubsch-Bonneaud, C, Jaffer, F, Cross, H, Gurrieri, F, Tiziano, D, Nevsimalova, S, Nicole, S, Neville, B, van den Maagdenberg, AMJM, Mikati, M, Goldstein, DB, Vavassori, R, Arzimanoglou, A
العلاقة: pii: 10.1186/s13023-015-0335-5; Panagiotakaki, E., De Grandis, E., Stagnaro, M., Heinzen, E. L., Fons, C., Sisodiya, S., de Vries, B., Goubau, C., Weckhuysen, S., Kemlink, D., Scheffer, I., Lesca, G., Rabilloud, M., Klich, A., Ramirez-Camacho, A., Ulate-Campos, A., Campistol, J., Giannotta, M., Moutard, M. -L. ,. Arzimanoglou, A. (2015). Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients. ORPHANET JOURNAL OF RARE DISEASES, 10 (1), https://doi.org/10.1186/s13023-015-0335-5Test.; http://hdl.handle.net/11343/261683Test
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6دورية أكاديمية
المؤلفون: Jaffer, F, Avbersek, A, Vavassori, R, Fons, C, Campistol, J, Stagnaro, M, De Grandis, E, Veneselli, E, Rosewich, H, Gianotta, M, Zucca, C, Ragona, F, Granata, T, Nardocci, N, Mikati, M, Helseth, AR, Boelman, C, Minassian, BA, Johns, S, Garry, SI, Scheffer, IE, Gourfinkel-An, I, Carrilho, I, Aylett, SE, Parton, M, Hanna, MG, Houlden, H, Neville, B, Kurian, MA, Novy, J, Sander, JW, Lambiase, PD, Behr, ER, Schyns, T, Arzimanoglou, A, Cross, JH, Kaski, JP, Sisodiya, SM
العلاقة: pii: awv243; Jaffer, F., Avbersek, A., Vavassori, R., Fons, C., Campistol, J., Stagnaro, M., De Grandis, E., Veneselli, E., Rosewich, H., Gianotta, M., Zucca, C., Ragona, F., Granata, T., Nardocci, N., Mikati, M., Helseth, A. R., Boelman, C., Minassian, B. A., Johns, S. ,. Sisodiya, S. M. (2015). Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype. BRAIN, 138 (Pt 10), pp.2859-2874. https://doi.org/10.1093/brain/awv243Test.; http://hdl.handle.net/11343/257702Test
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7دورية أكاديمية
المؤلفون: Sun, J.M., Case, L.E., McLaughlin, C., Skergan, N., Jasien, J.M., Mikati, M., Troy, J., Kurtzberg, J.
المصدر: Cytotherapy ; volume 23, issue 5, page S106-S107 ; ISSN 1465-3249
مصطلحات موضوعية: Cancer Research, Transplantation, Cell Biology, Genetics (clinical), Oncology, Immunology, Immunology and Allergy
الإتاحة: https://doi.org/10.1016/s1465324921004394Test
https://api.elsevier.com/content/article/PII:S1465324921004394?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1465324921004394?httpAccept=text/plainTest -
8دورية أكاديمية
المؤلفون: Mesraoua B., Deleu D., Kullmann D. M., Shetty A. K., Boon P., Perucca E., Mikati M. A., Asadi-Pooya A. A.
المساهمون: Mesraoua, B., Deleu, D., Kullmann, D. M., Shetty, A. K., Boon, P., Perucca, E., Mikati, M. A., Asadi-Pooya, A. A.
مصطلحات موضوعية: Drug resistance, Epilepsy, Seizure, Treatment
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31284159; info:eu-repo/semantics/altIdentifier/wos/WOS:000481571500043; volume:97; firstpage:282; lastpage:290; numberofpages:9; journal:EPILEPSY & BEHAVIOR; http://hdl.handle.net/11571/1285830Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85068399584; http://www.elsevier.com/inca/publications/store/6/2/2/8/2/2/index.httTest
الإتاحة: https://doi.org/10.1016/j.yebeh.2019.04.042Test
http://hdl.handle.net/11571/1285830Test
http://www.elsevier.com/inca/publications/store/6/2/2/8/2/2/index.httTest -
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المؤلفون: Perucca, P., Anderson, A., Jazayeri, D., Hitchcock, A., Graham, J., Todaro, M., Tomson, T., Battino, D., Perucca, E., Ferri, M. M., Rochtus, A., Lagae, L., Canevini, M. P., Zambrelli, E., Campbell, E., Koeleman, B. P. C., Scheffer, I. E., Berkovic, S. F., Kwan, P., Sisodiya, S. M., Goldstein, D. B., Petrovski, S., Craig, J., Vajda, F. J. E., O'Brien, T. J., Leu, C., Wolking, S., Peter, S., Weber, Y. G., Weckhuysen, S., Moller, R. S., Nikanorova, M., Muhle, H., Avbersek, A., Heggeli, K., Striano, P., Gambardella, A., Langley, S. R., Krenn, M., Klein, K. M., Mccormack, M., Borghei, M., Willis, J., Berghuis, B., Jorgensen, A., Auce, P., Francis, B., Srivastava, P., Sonsma, A. C. M., Sander, Jw., Zimprich, F., Depondt, C., Johnson, M. M., Marson, A. G., Sills, G. J., Kunz, W. S., Cavalleri, G. L., Delanty, N., Zara, F., Krause, R., Lerche, H., Andrade, D., Sen, A., Bazil, C. W., Boland, M., Cavalleri, G., Choi, H., Colombo, S., Costello, D., Devinsky, O., Doherty, C. P., Dugan, P., Frankel, W., Heinzen, E., Johnson, M., Marson, T., Mikati, M., Ottman, R., Pandolfo, M., Radtke, R., Rees, M., Sadoway, T., Valley, N., Walley, N., Wood, N., Zuberi, S.
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, DNA Copy Number Variations, Polymorphism, Single Nucleotide, Paternal Age, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Pregnancy, Polymorphism (computer science), medicine, Humans, Exome, Copy-number variation, Indel, business.industry, Confounding, Infant, Newborn, Abnormalities, Drug-Induced, Genetic Variation, DNA, medicine.disease, Genetic load, Exact test, Teratogens, 030104 developmental biology, Neurology, Anticonvulsants, Female, Neurology (clinical), Genetic Load, business, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54d00056b271fc1c143d3428130add6aTest
http://hdl.handle.net/11567/1021849Test -
10دورية أكاديمية
المؤلفون: Mikati, M., Santos, M., Armenta, C.
المساهمون: Ministerio de Ciencia e Innovación
مصطلحات موضوعية: Renewable energy, Solar resource, Wind resource, Photovoltaic module, Small-scale wind turbine, Hybrid system, Power demand, Electricity grid, Modelado, Simulación, Energías renovables, Recurso solar, Recurso eólico, Módulo fotovoltaico, Aerogenerador de pequeña escala, Sistemas híbridos, Red eléctrica
العلاقة: Revista Iberoamericana de Automática e Informática industrial; info:eu-repo/grantAgreement/MICINN//DPI2009-14552-C02-01/ES/Sistema De Vigilancia, Busqueda Y Rescate En El Mar Mediante Colaboracion De Vehiculos Autonomos Marinos Y Aereos./; https://doi.org/10.1016/j.riai.2012.05.010Test; urn:issn:1697-7912; http://hdl.handle.net/10251/144275Test; urn:eissn:1697-7920
النص الكامل