المؤلفون: Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schoneborn, S, Norman, A, Neto, OLA, Dusl, M, Yuan, XD, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzman-Vega, FJ, Pena, LDM, Smith, EC, Steinlin, M, Babiker, MOE, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, PF, Yang, YP, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Schoser, B, Rosler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, EJ, Bonnemann, CG, Gleeson, JG, Martini, R, Janke, C, Senderek, J

المصدر: The EMBO journal. 37(23)

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:139741553Test

المؤلفون: Bosch, E, Popp, B, Güse, E, Skinner, C, van der Sluijs, PJ, Maystadt, I, Pinto, AM, Renieri, A, Bruno, LP, Granata, S, Marcelis, C, Baysal, Ö, Hartwich, D, Holthöfer, L, Isidor, B, Cogne, B, Wieczorek, D, Capra, V, Scala, M, De Marco, P, Ognibene, M, Jamra, RA, Platzer, K, Carter, LB, Kuismin, O, van Haeringen, A, Maroofian, R, Valenzuela, I, Cuscó, I, Martinez-Agosto, JA, Rabani, AM, Mefford, HC, Pereira, EM, Close, C, Anyane-Yeboa, K, Wagner, M, Hannibal, MC, Zacher, P, Thiffault, I, Beunders, G, Umair, M, Bhola, PT, McGinnis, E, Millichap, J, van de Kamp, JM, Prijoles, EJ, Dobson, A, Shillington, A, Graham, BH, Garcia, EJ, Galindo, MK, Ropers, FG, Nibbeling, EAR, Hubbard, G, Karimov, C, Goj, G, Bend, R, Rath, J, Morrow, MM, Millan, F, Salpietro, V, Torella, A, Nigro, V, Kurki, M, Stevenson, RE, Santen, GWE, Zweier, M, Campeau, PM, Severino, M, Reis, A, Accogli, A, Vasileiou, G

المصدر: Genetics in Medicine , 25 (11) , Article 100950. (2023) (In press).

مصطلحات موضوعية: BAF, BAFopathy, Coffin-Siris syndrome, NDD, Nicolaides-Baraitser syndrome, SMARCC2, neurodevelopmental disorder

وصف الملف: application/pdf

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10181019Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10181019/1/1-s2.0-S1098360023009632-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10181019Test/

المؤلفون: Selg, E, Buccellati, C, Andersson, M, Rovati, G, Ezinga, M, Sala, A, Larsson, AK, Ambrosio, E, Lastbom, L, Capra, V, Dahlen, B, Ryrfeldt, A, Folco, G, Dahlen, SE

المصدر: British journal of pharmacology. 152(8):1185-1195

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:116311499Test

المؤلفون: Silvestri S., Capra V., Cucchiaro S., Pivato M., Tarolli P.

المساهمون: Silvestri, S., Capra, V., Cucchiaro, S., Pivato, M., Tarolli, P.

مصطلحات موضوعية: Cymodocea nodosa density, ecogeomorphology, P. nobilis emersion frequency and duration, Pinna nobilis spatial distribution, remote sensing, UAV surveys for ecological applications

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000777487700016; volume:127; issue:3; journal:JOURNAL OF GEOPHYSICAL RESEARCH. BIOGEOSCIENCES; http://hdl.handle.net/11390/1224384Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85127328697

الإتاحة: https://doi.org/10.1029/2021JG006667Test
http://hdl.handle.net/11390/1224384Test

المؤلفون: Orsini A., Santangelo A., Bravin F., Bonuccelli A., Peroni D., Battini R., Foiadelli T., Bertini V., Valetto A., Iacomino M., Nigro V., Torella A. L., Scala M., Capra V., Vari M. S., Fetta A., Di Pisa V., Montanari F., Epifanio R., Bonanni P., Giorda R., Operto F., Pastorino G., Sarigecili E., Sardaroglu E., Okuyaz C., Bozdogan S., Musante L., Faletra F., Zanus C., Ferretti A., Vigevano F., Striano P., Cordelli D. M.

المساهمون: Orsini, A., Santangelo, A., Bravin, F., Bonuccelli, A., Peroni, D., Battini, R., Foiadelli, T., Bertini, V., Valetto, A., Iacomino, M., Nigro, V., Torella, A. L., Scala, M., Capra, V., Vari, M. S., Fetta, A., Di Pisa, V., Montanari, F., Epifanio, R., Bonanni, P., Giorda, R., Operto, F., Pastorino, G., Sarigecili, E., Sardaroglu, E., Okuyaz, C., Bozdogan, S., Musante, L., Faletra, F., Zanus, C., Ferretti, A., Vigevano, F., Striano, P., Cordelli, D. M.

مصطلحات موضوعية: CSNK2B, Epilepsy, Neurodevelopment, Pobind, Seizure

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35205321; info:eu-repo/semantics/altIdentifier/wos/WOS:000763276000001; volume:13; firstpage:276; lastpage:290; numberofpages:15; journal:GENES; http://hdl.handle.net/11567/1075538Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124084248

الإتاحة: https://doi.org/10.3390/genes13020276Test
http://hdl.handle.net/11567/1075538Test

المؤلفون: Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, Schulte, B, Monaghan, KG, Begtrup, A, Torella, A, Pinelli, M, Denomme-Pichon, AS, Vitobello, A, Racine, C, Mancardi, MM, Kiss, C, Guerin, A, Wu, W, Vila, EG, Mak, BC, Martinez-Agosto, JA, Gorin, MB, Duz, B, Bayram, Y, Carvalho, CMB, Vengoechea, JE, Chitayat, D, Tan, TY, Callewaert, B, Kruse, B, Bird, LM, Faivre, L, Zollino, M, Biskup, S, Striano, P, Nigro, V, Severino, M, Capra, V, Costain, G, Nagata, K-I

العلاقة: pii: 6628315; Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. S., Vitobello, A., Racine, C., Mancardi, M. M. ,. Nagata, K. -I. (2022). Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. BRAIN, 145 (9), pp.3308-3327. https://doi.org/10.1093/brain/awac106Test.; http://hdl.handle.net/11343/318076Test

الإتاحة: https://doi.org/10.1093/brain/awac106Test
http://hdl.handle.net/11343/318076Test

المؤلفون: Akin, L, Rizzoti, K, Gregory, LC, Corredor, B, Le Quesne Stabej, P, Williams, H, Buonocore, F, Mouilleron, S, Capra, V, McGlacken-Byrne, SM, Martos-Moreno, GÁ, Azmanov, DN, Kendirci, M, Kurtoglu, S, Suntharalingham, JP, Galichet, C, Gustincich, S, Tasic, V, Achermann, JC, Accogli, A, Filipovska, A, Tuilpakov, A, Maghnie, M, Gucev, Z, Gonen, ZB, Pérez-Jurado, LA, Robinson, I, Lovell-Badge, R, Argente, J, Dattani, MT

المصدر: Genetics in Medicine , 24 (2) pp. 384-397. (2022)

مصطلحات موضوعية: Growth hormone deficiency, Hypopituitarism, Minor spliceosome, Primary ovarian insufficiency, U12-type spliceosome

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141644/1/Gregory_RNPC3_accepted.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141644Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141644/1/Gregory_RNPC3_accepted.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141644Test/

المؤلفون: Scala M., Anijs M., Battini R., Madia F., Capra V., Scudieri P., Verrotti A., Zara F., Minetti C., Vernes S. C., Striano P.

المساهمون: Scala, M., Anijs, M., Battini, R., Madia, F., Capra, V., Scudieri, P., Verrotti, A., Zara, F., Minetti, C., Vernes, S. C., Striano, P.

مصطلحات موضوعية: Autism, CASPR2, Hyperkinesia, Hyperkinetic movement disorder, Intellectual disability, Intragenic duplication, Speech impairment

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/34641913; info:eu-repo/semantics/altIdentifier/wos/WOS:000706740300003; volume:47; issue:1; firstpage:1; lastpage:5; numberofpages:5; journal:THE ITALIAN JOURNAL OF PEDIATRICS; http://hdl.handle.net/11568/1116727Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85117347962

الإتاحة: https://doi.org/10.1186/s13052-021-01162-wTest
http://hdl.handle.net/11568/1116727Test

المؤلفون: Pavanello M., Fiaschi P., Accogli A., Severino M., Tortora D., Piatelli G., Capra V.

المساهمون: Pavanello, M., Fiaschi, P., Accogli, A., Severino, M., Tortora, D., Piatelli, G., Capra, V.

مصطلحات موضوعية: Anomaly, Basal encephalocele, Morning glory, Moyamoya, OFD1, Phenotypic spectrum, Revascularization

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33825116; info:eu-repo/semantics/altIdentifier/wos/WOS:000637457200002; firstpage:1; lastpage:10; numberofpages:10; journal:NEUROLOGICAL SCIENCES; https://hdl.handle.net/11567/1055461Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85103879029

الإتاحة: https://doi.org/10.1007/s10072-021-05221-2Test
https://hdl.handle.net/11567/1055461Test

المؤلفون: Imbrici P., Accogli A., Blunck R., Altamura C., Iacomino M., D'Adamo M. C., Allegri A., Pedemonte M., Brolatti N., Vari S., Cataldi M., Capra V., Gustincich S., Zara F., Desaphy J. -F., Fiorillo C.

المساهمون: Imbrici, P., Accogli, A., Blunck, R., Altamura, C., Iacomino, M., D'Adamo, M. C., Allegri, A., Pedemonte, M., Brolatti, N., Vari, S., Cataldi, M., Capra, V., Gustincich, S., Zara, F., Desaphy, J. -F., Fiorillo, C.

مصطلحات موضوعية: Ataxia, Creatine kinase, KCNA1, Molecular modeling, Muscle hypertrophy, Myokymia, Neuromyotonia, Patch clamp

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33466780; info:eu-repo/semantics/altIdentifier/wos/WOS:000609854300001; volume:9; firstpage:1; lastpage:14; numberofpages:14; journal:BIOMEDICINES; http://hdl.handle.net/11567/1044535Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100493500

الإتاحة: https://doi.org/10.3390/biomedicines9010075Test
http://hdl.handle.net/11567/1044535Test