المؤلفون: Meossi, C., Carrer, A., Ciaccio, C., Estienne, M., Silipigni, R., Sciacca, F. L., Pantaleoni, C., D'Arrigo, S., Milani, D.

المساهمون: C. Meossi, A. Carrer, C. Ciaccio, M. Estienne, R. Silipigni, F.L. Sciacca, C. Pantaleoni, S. D'Arrigo, D. Milani

مصطلحات موضوعية: 15q11, 2 BP1-BP2 CNV, Intellectual disability, Magnesium, Neurodevelopmental disorder, Parent-of-origin effect, Settore MED/38 - Pediatria Generale e Specialistica

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000979023600001; volume:67; issue:7; firstpage:679; lastpage:689; numberofpages:11; journal:JOURNAL OF INTELLECTUAL DISABILITY RESEARCH; https://hdl.handle.net/2434/1032275Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85154030177

الإتاحة: https://doi.org/10.1111/jir.13038Test
https://hdl.handle.net/2434/1032275Test

المؤلفون: De Simone G., Di Masi A., Pesce A., Bolognesi M., Ciaccio C., Tognaccini L., Smulevich G., Abbruzzetti S., Viappiani C., Bruno S., Della Monaca S., Pietraforte D., Fattibene P., Coletta M., Ascenzi P.

المساهمون: De Simone, G., Di Masi, A., Pesce, A., Bolognesi, M., Ciaccio, C., Tognaccini, L., Smulevich, G., Abbruzzetti, S., Viappiani, C., Bruno, S., Della Monaca, S., Pietraforte, D., Fattibene, P., Coletta, M., Ascenzi, P.

مصطلحات موضوعية: Heme, Homo sapien, Mycobacterium tuberculosi, Nitrobindin, Reactivity, Structure, Bacterial Protein, Carbon Monoxide, Ferrous Compound, Hemeprotein, Human, Kinetic, Ligand, Nitric Oxide, Spectrum Analysis, Raman

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000623980300001; volume:22; issue:4; firstpage:1; lastpage:27; numberofpages:27; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; http://hdl.handle.net/11590/398766Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85100509287

الإتاحة: https://doi.org/10.3390/ijms22041674Test
http://hdl.handle.net/11590/398766Test

المؤلفون: Leonardi E., Bellini M., Aspromonte M. C., Polli R., Mercante A., Ciaccio C., Granocchio E., Bettella E., Donati I., Cainelli E., Boni S., Sartori S., Pantaleoni C., Boniver C., Murgia A.

المساهمون: Leonardi, E., Bellini, M., Aspromonte, M. C., Polli, R., Mercante, A., Ciaccio, C., Granocchio, E., Bettella, E., Donati, I., Cainelli, E., Boni, S., Sartori, S., Pantaleoni, C., Boniver, C., Murgia, A.

مصطلحات موضوعية: ASD, Epilepsy, ESES, Gene panel, ID, Mosaicism, NGS, WAC

وصف الملف: ELETTRONICO

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32214004; info:eu-repo/semantics/altIdentifier/wos/WOS:000529189000108; volume:11; issue:3; firstpage:344; numberofpages:16; journal:GENES; http://hdl.handle.net/11577/3340470Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082481693; https://www.mdpi.com/2073-4425/11/3/344Test

الإتاحة: https://doi.org/10.3390/genes11030344Test
http://hdl.handle.net/11577/3340470Test
https://www.mdpi.com/2073-4425/11/3/344Test

المؤلفون: Cimmino A., Fasciglione G. F., Gioia M., Marini S., Ciaccio C.

المساهمون: Cimmino, A, Fasciglione, Gf, Gioia, M, Marini, S, Ciaccio, C

مصطلحات موضوعية: Settore BIO/10

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:001061236700001; volume:24; issue:17; firstpage:1; lastpage:40; numberofpages:40; journal:INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; https://hdl.handle.net/2108/336163Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85170353345; https:// doi.org/10.3390/ijms241713344

الإتاحة: https://doi.org/10.3390/ijms241713344Test
https://hdl.handle.net/2108/336163Test

المؤلفون: Anagnostou, A., Greenhawt, M., Lieberman, J., Ciaccio, C., Sindher, S., Gupta, S., Creasy, B., Nowak-Wegrzyn, A.

المصدر: Annals of Allergy, Asthma & Immunology ; volume 131, issue 5, page S74 ; ISSN 1081-1206

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Immunology and Allergy, Immunology

الإتاحة: https://doi.org/10.1016/j.anai.2023.08.225Test
https://api.elsevier.com/content/article/PII:S1081120623008360?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1081120623008360?httpAccept=text/plainTest

المؤلفون: Hsieh, T-C, Mensah, MA, Pantel, JT, Aguilar, D, Bar, O, Bayat, A, Becerra-Solano, L, Bentzen, HB, Biskup, S, Borisov, O, Braaten, O, Ciaccio, C, Coutelier, M, Cremer, K, Danyel, M, Daschkey, S, Eden, HD, Devriendt, K, Wilson, S, Douzgou, S, Đukić, D, Ehmke, N, Fauth, C, Fischer-Zirnsak, B, Fleischer, N, Gabriel, H, Graul-Neumann, L, Gripp, KW, Gurovich, Y, Gusina, A, Haddad, N, Hajjir, N, Hanani, Y, Hertzberg, J, Hoertnagel, K, Howell, J, Ivanovski, I, Kaindl, A, Kamphans, T, Kamphausen, S, Karimov, C, Kathom, H, Keryan, A, Knaus, A, Köhler, S, Kornak, U, Lavrov, A, Leitheiser, M, Lyon, GJ, Mangold, E, Reina, PM, Carrascal, AM, Mitter, D, Herrador, LM, Nadav, G, Nöthen, M, Orrico, A, Ott, C-E, Park, K, Peterlin, B, Pölsler, L, Raas-Rothschild, A, Randolph, L, Revencu, N, Fagerberg, CR, Robinson, PN, Rosnev, S, Rudnik, S, Rudolf, G, Schatz, U, Schossig, A, Schubach, M, Shanoon, O, Sheridan, E, Smirin-Yosef, P, Spielmann, M, Suk, E-K, Sznajer, Y, Thiel, CT, Thiel, G, Verloes, A, Vrecar, I, Wahl, D, Weber, I, Winter, K, Wiśniewska, M, Wollnik, B, Yeung, MW, Zhao, M, Zhu, N, Zschocke, J, Mundlos, S, Horn, D, Krawitz, PM

وصف الملف: text

العلاقة: https://eprints.whiterose.ac.uk/157204/1/s41436-019-0566-2.pdfTest; Hsieh, T-C, Mensah, MA, Pantel, JT et al. (91 more authors) (2019) PEDIA: prioritization of exome data by image analysis. Genetics in Medicine, 21 (12). pp. 2807-2814. ISSN 1098-3600

الإتاحة: https://eprints.whiterose.ac.uk/157204Test/
https://eprints.whiterose.ac.uk/157204/1/s41436-019-0566-2.pdfTest

المؤلفون: Sbardella D., Tundo G. R., Campagnolo L., Valacchi G., Orlandi A., Curatolo P., Borsellino G., D'Esposito M., Ciaccio C., Di Cesare S., Di Pierro D., Galasso C., Santarone M. E., Hayek J., Coletta M., Marini S.

المساهمون: Sbardella, D, Tundo, Gr, Campagnolo, L, Valacchi, G, Orlandi, A, Curatolo, P, Borsellino, G, D'Esposito, M, Ciaccio, C, Di Cesare, S, Di Pierro, D, Galasso, C, Santarone, Me, Hayek, J, Coletta, M, Marini, S

مصطلحات موضوعية: Animal, Autophagosome, Autophagy, Cells, Cultured, Cerebellum, Disease Models, Erythrocyte, Female, Fibroblast, Healthy Volunteer, Human, Male, Methyl-CpG-Binding Protein 2, Mice, Inbred C57BL, Knockout, Mutation, Primary Cell Culture, Protein Aggregate, Rett Syndrome, Sequestosome-1 Protein, Mitochondria, Settore BIO/10 - BIOCHIMICA, Settore MED/39 - NEUROPSICHIATRIA INFANTILE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28951555; info:eu-repo/semantics/altIdentifier/wos/WOS:000411677500001; volume:7; issue:1; firstpage:12297; journal:SCIENTIFIC REPORTS; http://hdl.handle.net/2108/229038Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85030108732

الإتاحة: https://doi.org/10.1038/s41598-017-12069-0Test
http://hdl.handle.net/2108/229038Test

المؤلفون: Lines M. A., Goldenberg P., Wong A., Srivastava S., Bayat A., Hove H., Karstensen H. G., Anyane-Yeboa K., Liao J., Jiang N., May A., Guzman E., Morleo M., D'Arrigo S., Ciaccio C., Pantaleoni C., Castello R., McKee S., Ong J., Zibdeh-Lough H., Tran-Mau-Them F., Gerasimenko A., Heron D., Keren B., Margot H., de Sainte Agathe J. -M., Burglen L., Voets T., Vriens J., Innes A. M., Dyment D. A.

المساهمون: Lines, M. A., Goldenberg, P., Wong, A., Srivastava, S., Bayat, A., Hove, H., Karstensen, H. G., Anyane-Yeboa, K., Liao, J., Jiang, N., May, A., Guzman, E., Morleo, M., D'Arrigo, S., Ciaccio, C., Pantaleoni, C., Castello, R., Mckee, S., Ong, J., Zibdeh-Lough, H., Tran-Mau-Them, F., Gerasimenko, A., Heron, D., Keren, B., Margot, H., de Sainte Agathe, J. -M., Burglen, L., Voets, T., Vriens, J., Innes, A. M., Dyment, D. A.

مصطلحات موضوعية: Genematcher, global developmental delay, intellectual disability, seizure, TRPM3

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35146895; info:eu-repo/semantics/altIdentifier/wos/WOS:000753665900001; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11591/466906Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124909239

الإتاحة: https://doi.org/10.1002/ajmg.a.62673Test
http://hdl.handle.net/11591/466906Test

المؤلفون: Santoro A. M., Cunsolo A., D'Urso A., Sbardella D., Tundo G. R., Ciaccio C., Coletta M., Diana D., Fattorusso R., Persico M., Di Dato A., Fattorusso C., Milardi D., Purrello R.

المساهمون: Santoro, Am, Cunsolo, A, D'Urso, A, Sbardella, D, Tundo, Gr, Ciaccio, C, Coletta, M, Diana, D, Fattorusso, R, Persico, M, Di Dato, A, Fattorusso, C, Milardi, D, Purrello, R

مصطلحات موضوعية: Settore BIO/10 - BIOCHIMICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/29910886; info:eu-repo/semantics/altIdentifier/wos/WOS:000368835300057; volume:7; issue:2; firstpage:1286; lastpage:1297; numberofpages:12; journal:CHEMICAL SCIENCE; http://hdl.handle.net/2108/228988Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84961386686

الإتاحة: https://doi.org/10.1039/c5sc03312hTest
http://hdl.handle.net/2108/228988Test

المؤلفون: Ciaccio C., Ocana-Calahorro F., Droghetti E., Tundo G. R., Sanz-Luque E., Polticelli F., Visca P., Smulevich G., Ascenzi P., Coletta M.

المساهمون: Ciaccio, C, Ocana-Calahorro, F, Droghetti, E, Tundo, Gr, Sanz-Luque, E, Polticelli, F, Visca, P, Smulevich, G, Ascenzi, P, Coletta, M

مصطلحات موضوعية: Azide, Base Sequence, Chlamydomonas reinhardtii, DNA Primer, Hydrogen-Ion Concentration, Iron, Kinetic, Molecular Sequence Data, Protein Conformation, Sequence Analysis, DNA, Spectrophotometry, Truncated Hemoglobin, Models, Molecular, Settore BIO/10 - BIOCHIMICA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25993270; info:eu-repo/semantics/altIdentifier/wos/WOS:000354921400022; volume:10; issue:5; firstpage:e0125005; journal:PLOS ONE; http://hdl.handle.net/2108/228974Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930674938

الإتاحة: https://doi.org/10.1371/journal.pone.0125005Test
http://hdl.handle.net/2108/228974Test