المؤلفون: Jain S., Bakolitsa C., Brenner S. E., Radivojac P., Moult J., Repo S., Hoskins R. A., Andreoletti G., Barsky D., Chellapan A., Chu H., Dabbiru N., Kollipara N. K., Ly M., Neumann A. J., Pal L. R., Odell E., Pandey G., Peters-Petrulewicz R. C., Srinivasan R., Yee S. F., Yeleswarapu S. J., Zuhl M., Adebali O., Patra A., Beer M. A., Hosur R., Peng J., Bernard B. M., Berry M., Dong S., Boyle A. P., Adhikari A., Chen J., Hu Z., Wang R., Wang Y., Miller M., Bromberg Y., Turina P., Capriotti E., Han J. J., Ozturk K., Carter H., Babbi G., Bovo S., Di Lena P., Martelli P. L., Savojardo C., Casadio R., Cline M. S., De Baets G., Bonache S., Diez O., Gutierrez-Enriquez S., Fernandez A., Montalban G., Ootes L., Ozkan S., Padilla N., Riera C., De la Cruz X., Diekhans M., Huwe P. J., Wei Q., Xu Q., Dunbrack R. L., Gotea V., Elnitski L., Margolin G., Fariselli P., Kulakovskiy I. V., Makeev V. J., Penzar D. D., Vorontsov I. E., Favorov A. V., Forman J. R., Hasenahuer M., Fornasari M. S., Parisi G., Avsec Z., Celik M. H., Nguyen T. Y. D., Gagneur J., Shi F. -Y., Edwards M. D., Guo Y., Tian K., Zeng H., Gifford D. K., Goke J., Zaucha J., Gough J., Ritchie G. R. S., Frankish A., Mudge J. M., Harrow J., Young E. L., Yu Y., Huff C. D., Murakami K., Nagai Y., Imanishi T., Mungall C. J., Jacobsen J. O. B., Kim D., Jeong C. -S., Jones D. T., Li M. J., Guthrie V. B., Bhattacharya R., Chen Y. -C., Douville C., Fan J., Masica D., Niknafs N., Sengupta S., Tokheim C., Turner T. N., Yeo H. T. G., Karchin R., Shin S., Welch R., Keles S., Li Y., Kellis M., Corbi-Verge C., Strokach A. V., Kim P. M., Klein T. E., Mohan R., Sinnott-Armstrong N. A., Wainberg M., Kundaje A., Gonzaludo N., Mak A. C. Y., Chhibber A., Lam H. Y. K., Dahary D., Fishilevich S., Lancet D., Lee I., Bachman B., Katsonis P., Lua R. C., Wilson S. J., Lichtarge O., Bhat R. R., Sundaram L., Viswanath V., Bellazzi R., Nicora G., Rizzo E., Limongelli I., Mezlini A. M., Chang R., Kim S., Lai C., O'Connor R., Topper S., van den Akker J., Zhou A. Y., Zimmer A. D., Mishne G., Bergquist T. R., Breese M. R., Guerrero R. F., Jiang Y., Kiga N., Li B., Mort M., Pagel K. A., Pejaver V., Stamboulian M. H., Thusberg J., Mooney S. D., Teerakulkittipong N., Cao C., Kundu K., Yin Y., Yu C. -H., Kleyman M., Lin C. -F., Stackpole M., Mount S. M., Eraslan G., Mueller N. S., Naito T., Rao A. R., Azaria J. R., Brodie A., Ofran Y., Garg A., Pal D., Hawkins-Hooker A., Kenlay H., Reid J., Mucaki E. J., Rogan P. K., Schwarz J. M., Searls D. B., Lee G. R., Seok C., Kramer A., Shah S., Huang C. V., Kirsch J. F., Shatsky M., Cao Y., Chen H., Karimi M., Moronfoye O., Sun Y., Shen Y., Shigeta R., Ford C. T., Nodzak C., Uppal A., Shi X., Joseph T., Kotte S., Rana S., Rao A., Saipradeep V. G., Sivadasan N., Sunderam U., Stanke M., Su A., Adzhubey I., Jordan D. M., Sunyaev S., Rousseau F., Schymkowitz J., Van Durme J., Tavtigian S. V., Carraro M., Giollo M., Tosatto S. C. E., Adato O., Carmel L., Cohen N. E., Fenesh T., Holtzer T., Juven-Gershon T., Unger R., Niroula A., Olatubosun A., Valiaho J., Yang Y., Vihinen M., Wahl M. E., Chang B., Chong K. C., Hu I., Sun R., Wu W. K. K., Xia X., Zee B. C., Wang M. H., Wang M., Wu C., Lu Y., Chen K., Yates C. M., Kreimer A., Yan Z., Yosef N., Zhao H., Wei Z., Yao Z., Zhou F., Folkman L., Zhou Y., Daneshjou R., Altman R. B., Inoue F., Ahituv N., Arkin A. P., Lovisa F., Bonvini P., Bowdin S., Gianni S., Mantuano E., Minicozzi V., Novak L., Pasquo A., Pastore A., Petrosino M., Puglisi R., Toto A., Veneziano L., Chiaraluce R., Ball M. P., Bobe J. R., Church G. M., Consalvi V., Cooper D. N., Buckley B. A., Sheridan M. B., Cutting G. R., Scaini M. C., Cygan K. J., Fredericks A. M., Glidden D. T., Neil C., Rhine C. L., Fairbrother W. G., Alontaga A. Y., Fenton A. W., Matreyek K. A., Starita L. M., Fowler D. M., Loscher B. -S., Franke A., Adamson S. I., Graveley B. R., Gray J. W., Malloy M. J., Kane J. P., Kousi M., Katsanis N., Schubach M., Kircher M., Tang P. L. F., Kwok P. -Y., Lathrop R. H., Clark W. T., Yu G. K., LeBowitz J. H., Benedicenti F., Bettella E., Bigoni S., Cesca F., Mammi I., Marino-Buslje C., Milani D., Peron A., Polli R., Sartori S., Stanzial F., Toldo I., Turolla L., Aspromonte M. C., Bellini M., Leonardi E., Liu X., Marshall C., McCombie W. R., Elefanti L., Menin C., Meyn M. S., Murgia A., Nadeau K. C. Y., Neuhausen S. L., Nussbaum R. L., Pirooznia M., Potash J. B., Dimster-Denk D. F., Rine J. D., Sanford J. R., Snyder M., Cote A. G., Sun S., Verby M. W., Weile J., Roth F. P., Tewhey R., Sabeti P. C., Campagna J., Refaat M. M., Wojciak J., Grubb S., Schmitt N., Shendure J., Spurdle A. B., Stavropoulos D. J., Walton N. A., Zandi P. P., Ziv E., Burke W., Chen F., Carr L. R., Martinez S., Paik J., Harris-Wai J., Yarborough M., Fullerton S. M., Koenig B. A., McInnes G., Shigaki D., Chandonia J. -M., Furutsuki M., Kasak L., Yu C., Chen R., Friedberg I., Getz G. A., Cong Q., Kinch L. N., Zhang J., Grishin N. V., Voskanian A., Kann M. G., Tran E., Ioannidis N. M., Hunter J. M., Udani R., Cai B., Morgan A. A., Sokolov A., Stuart J. M., Minervini G., Monzon A. M., Batzoglou S., Butte A. J., Greenblatt M. S., Hart R. K., Hernandez R., Hubbard T. J. P., Kahn S., O'Donnell-Luria A., Ng P. C., Shon J., Veltman J., Zook J. M.

المساهمون: Jain, S., Bakolitsa, C., Brenner, S. E., Radivojac, P., Moult, J., Repo, S., Hoskins, R. A., Andreoletti, G., Barsky, D., Chellapan, A., Chu, H., Dabbiru, N., Kollipara, N. K., Ly, M., Neumann, A. J., Pal, L. R., Odell, E., Pandey, G., Peters-Petrulewicz, R. C., Srinivasan, R., Yee, S. F., Yeleswarapu, S. J., Zuhl, M., Adebali, O., Patra, A., Beer, M. A., Hosur, R., Peng, J., Bernard, B. M., Berry, M., Dong, S., Boyle, A. P., Adhikari, A., Chen, J., Hu, Z., Wang, R., Wang, Y., Miller, M., Bromberg, Y., Turina, P., Capriotti, E., Han, J. J., Ozturk, K., Carter, H., Babbi, G., Bovo, S., Di Lena, P., Martelli, P. L., Savojardo, C., Casadio, R., Cline, M. S., De Baets, G., Bonache, S., Diez, O., Gutierrez-Enriquez, S., Fernandez, A., Montalban, G., Ootes, L., Ozkan, S., Padilla, N., Riera, C., De la Cruz, X., Diekhans, M., Huwe, P. J., Wei, Q., Xu, Q., Dunbrack, R. L., Gotea, V., Elnitski, L., Margolin, G., Fariselli, P., Kulakovskiy, I. V., Makeev, V. J., Penzar, D. D., Vorontsov, I. E., Favorov, A. V., Forman, J. R., Hasenahuer, M., Fornasari, M. S., Parisi, G., Avsec, Z., Celik, M. H., Nguyen, T. Y. D., Gagneur, J., Shi, F. -Y., Edwards, M. D., Guo, Y., Tian, K., Zeng, H., Gifford, D. K., Goke, J., Zaucha, J., Gough, J., Ritchie, G. R. S., Frankish, A., Mudge, J. M., Harrow, J., Young, E. L., Yu, Y.

مصطلحات موضوعية: Variant detection, bioinformatics

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/38389099; volume:25; issue:1; journal:GENOME BIOLOGY; https://hdl.handle.net/11571/1498598; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85187866396; https://genomebiology.biomedcentral.com/articles/10.1186/s13059-023-03113-6

الاتاحة: https://hdl.handle.net/11571/1498598
https://doi.org/10.1186/s13059-023-03113-6
https://genomebiology.biomedcentral.com/articles/10.1186/s13059-023-03113-6

المؤلفون: Fiorentini, G., Bruni, M. L., Mammi, I.

المصدر: Journal of Economic Behavior & Organization. 204:37-68

مصطلحات موضوعية: Pharmaceutical markets, Organizational Behavior and Human Resource Management, Economics and Econometrics, Physicians’ prescribing behaviour, Patent expiration, Counterfactual analysis, Interrupted time-series, Settore SECS-P/03 - Scienza delle Finanze, Generic drugs, Settore SECS-P/01 - Economia Politica, Settore SECS-P/02 - Politica Economica

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6ebb444c251fc7dbbfc0a98bc4c460b
https://doi.org/10.1016/j.jebo.2022.10.003

المؤلفون: Cini G., Quaia M., Canzonieri V., Fornasarig M., Maestro R., Morabito A., D'Elia A. V., Urso E. D. L., Mammi I., Viel A.

المساهمون: Cini, G., Quaia, M., Canzonieri, V., Fornasarig, M., Maestro, R., Morabito, A., D'Elia, A. V., Urso, E. D. L., Mammi, I., Viel, A.

مصطلحات موضوعية: deletion, EPCAM, epigenetic, Lynch Syndrome, methylation, MSH2, Adult, Colorectal Neoplasms, Hereditary Nonpolyposi, DNA Methylation, DNA-Binding Protein, Epithelial Cell Adhesion Molecule, Female, Human, Male, Middle Aged, MutS Homolog 2 Protein, Phenotype, Gene Deletion, Gene Frequency

Relation: info:eu-repo/semantics/altIdentifier/pmid/30916491; info:eu-repo/semantics/altIdentifier/wos/WOS:000468084200002; volume:7; issue:5; firstpage:e587; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11577/3413405; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85065412096

الاتاحة: http://hdl.handle.net/11577/3413405
https://doi.org/10.1002/mgg3.587

المؤلفون: Aspromonte M. C., BELLINI, MARIAGRAZIA, Gasparini A., Carraro M., Bettella E., Polli R., Cesca F., Bigoni S., Boni S., Carlet O., Negrin S., Mammi I., MILANI, DUCCIO, Peron A., Sartori S., Toldo I., Soli F., Turolla L., Stanzial F., Benedicenti F., MARINO BUSLJE, CRISTINA ESTER, Tosatto S. C. E., Murgia A., Leonardi E.

المساهمون: Aspromonte, M. C., Bellini, Mariagrazia, Gasparini, A., Carraro, M., Bettella, E., Polli, R., Cesca, F., Bigoni, S., Boni, S., Carlet, O., Negrin, S., Mammi, I., Milani, Duccio, Peron, A., Sartori, S., Toldo, I., Soli, F., Turolla, L., Stanzial, F., Benedicenti, F., MARINO BUSLJE, CRISTINA ESTER, Tosatto, S. C. E., Murgia, A., Leonardi, E.

مصطلحات موضوعية: ASD, ID, NGS, comorbidity, gene panel, variant interpretation

Relation: info:eu-repo/semantics/altIdentifier/pmid/31209962; info:eu-repo/semantics/altIdentifier/wos/WOS:000479853400001; journal:HUMAN MUTATION; http://hdl.handle.net/11577/3307129; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070077996

الاتاحة: http://hdl.handle.net/11577/3307129
https://doi.org/10.1002/humu.23822

المؤلفون: Negro S., Bao Q. R., Scarpa M., Scognamiglio F., Pucciarelli S., Remo A., Agostini M., D'Angelo E., Mammi I., Schiavi F., Rossi S., Zingone F., Ferrara F., Fantin A., Cristofori C., Guido E., Rizzotto E. R., Intini R., Bergamo F., Fassan M., Salviati L., Urso E. D. L.

المساهمون: Negro, S., Bao, Q. R., Scarpa, M., Scognamiglio, F., Pucciarelli, S., Remo, A., Agostini, M., D'Angelo, E., Mammi, I., Schiavi, F., Rossi, S., Zingone, F., Ferrara, F., Fantin, A., Cristofori, C., Guido, E., Rizzotto, E. R., Intini, R., Bergamo, F., Fassan, M., Salviati, L., Urso, E. D. L.

مصطلحات موضوعية: Colorectal cancer, Colorectal polyposi, Familial adenomatous polyposi, MUTYH associated polyposis

Relation: info:eu-repo/semantics/altIdentifier/pmid/38071180; info:eu-repo/semantics/altIdentifier/wos/WOS:001266698800004; journal:DIGESTIVE AND LIVER DISEASE; https://hdl.handle.net/11577/3502896

الاتاحة: https://hdl.handle.net/11577/3502896
https://doi.org/10.1016/j.dld.2023.11.034

المؤلفون: Ivanovski, I, Djuric, O, Caraffi, SG, Santodirocco, D, Pollazzon, M, Rosato, S, Cordelli, D M, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, PF, Badura-Stronka, M, Baldo, C, Baldi, M, Bayat, A, Bigoni, S, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, De Brasi, D, DeVriendt, K, Dinulos, MB, Hjortshoj, TD, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Montorsi, G, Moutton, S, Moller, RS, Muschke, P, Nielsen, JEK, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Prpic, I, Poch-Olive, ML, Raviglione, F, Renieri, A, Ricci, E, Rivieri, F, Santen, GW, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Tone, LG, Toutain, A, Trimouille, A, Valera, ET, Vergano, SS, Zanotta, N, Zenker, M, Conidi, Andrea, Zollino, M, Rauch, A, Zweier, C, Garavelli, L

المصدر: Ivanovski , I , Djuric , O , Caraffi , SG , Santodirocco , D , Pollazzon , M , Rosato , S , Cordelli , D M , Abdalla , E , Accorsi , P , Adam , MP , Ajmone , PF , Badura-Stronka , M , Baldo , C , Baldi , M , Bayat , A , Bigoni , S , Bonvicini , F , Breckpot , J , Callewaert , B , Cocchi , G , Cuturilo , G , De Brasi , D , DeVriendt , K , Dinulos , MB , Hjortshoj ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCMGC021302, name=EMC MGC-02-13-02

وصف الملف: application/pdf

الاتاحة: https://pure.eur.nl/en/publications/4b4c8f16-695b-49be-91d2-48752f3de9da
https://doi.org/10.1038/gim.2017.221
https://pure.eur.nl/ws/files/47977608/RePub-114496-OA.pdf
http://hdl.handle.net/1765/114496

المؤلفون: Burker M., Mammi I., Minerva G. A.

المساهمون: Burker, M., Mammi, I., Minerva, G. A.

مصطلحات موضوعية: Civic capital, Outsourcing, Purchased service intensity, Vertical integration, Settore SECS-P/01 - Economia Politica, Settore SECS-P/02 - Politica Economica

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000696947800020; volume:138; firstpage:103855; journal:EUROPEAN ECONOMIC REVIEW; http://hdl.handle.net/10278/3744871; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85112771271

الاتاحة: http://hdl.handle.net/10278/3744871
https://doi.org/10.1016/j.euroecorev.2021.103855

المؤلفون: Urso E. D. L., Ponz de Leon M., Vitellaro M., Piozzi G. N., Bao Q. R., Martayan A., Remo A., Stigliano V., Oliani C., Lucci Cordisco E., Pucciarelli S., Ranzani G. N., Viel A., Adami F., Alducci E., Amadori L., Arcangeli V., Balestrino L., Barana D., Bertario L., Bonanni B., Boni S., Bullian P., Carbonardi F., Carnevali I., Castelli P., Celotto F., Cini G., Crivellari G., Libera D. D., Dell'elice A., Digennaro M., D'urso A., Fabretto A., Fanale D., Feroce I., Furlan D., Ghiorzo P., Giacche M., Gusella M., Liserre B., Mammi I., Massuras S., Mazza D., Mollica E., Morabito A., Nardo G., Palermo F., Panizza E., Patruno M., Pedroni M., Pensotti V. G. M., Pozzi S., Presi S., Puzzono M., Ravegnani M., Ricci M. T., Roncucci L., Rossi G. B., Sala E. M., Mete L. S., Sandona D., Sciallero S., Serrano D., Signoroni S., Spina F., Taborelli M., Tedaldi G., Tibiletti M. G., Tognazzo S., Tolva G., Trovato C. M. C., Turchetti D., Varvara D., Vivanet C., Zovato S., Zuppardo R. A.

المساهمون: Urso, E. D. L., Ponz de Leon, M., Vitellaro, M., Piozzi, G. N., Bao, Q. R., Martayan, A., Remo, A., Stigliano, V., Oliani, C., Lucci Cordisco, E., Pucciarelli, S., Ranzani, G. N., Viel, A., Adami, F., Alducci, E., Amadori, L., Arcangeli, V., Balestrino, L., Barana, D., Bertario, L., Bonanni, B., Boni, S., Bullian, P., Carbonardi, F., Carnevali, I., Castelli, P., Celotto, F., Cini, G., Crivellari, G., Libera, D. D., Dell'Elice, A., Digennaro, M., D'Urso, A., Fabretto, A., Fanale, D., Feroce, I., Furlan, D., Ghiorzo, P., Giacche, M., Gusella, M., Liserre, B., Mammi, I., Massuras, S., Mazza, D., Mollica, E., Morabito, A., Nardo, G., Palermo, F., Panizza, E., Patruno, M., Pedroni, M., Pensotti, V. G. M., Pozzi, S., Presi, S., Puzzono, M., Ravegnani, M., Ricci, M. T., Roncucci, L., Rossi, G. B., Sala, E. M., Mete, L. S., Sandona, D., Sciallero, S., Serrano, D., Signoroni, S., Spina, F., Taborelli, M., Tedaldi, G., Tibiletti, M. G., Tognazzo, S., Tolva, G., Trovato, C. M. C., Turchetti, D., Varvara, D., Vivanet, C., Zovato, S., Zuppardo, R. A.

مصطلحات موضوعية: Cancer Genetic, Colorectal cancer, Colorectal polyposis not associated with APC/MUTYH mutation, Consensus development conference, Endoscopic surveillance, Polyposis management guideline, Surgical Management, Adenomatous Polyposis Coli, Adenomatous Polyposis Coli Protein, Consensu, DNA Glycosylase, Germ Cell, Human, Italy, Societies, Medical

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/33504457; volume:53; issue:4; firstpage:409-417; lastpage:417; journal:DIGESTIVE AND LIVER DISEASE; http://hdl.handle.net/11571/1450138; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85099965663

الاتاحة: http://hdl.handle.net/11571/1450138
https://doi.org/10.1016/j.dld.2020.11.018

المؤلفون: Dell'Elice A., Cini G., Fornasarig M., Armelao F., Barana D., Bianchi F., Casalis Cavalchini G. C., Maffe A., Mammi I., Pedroni M., Percesepe A., Sorrentini I., Tibiletti M., Maestro R., Quaia M., Viel A.

المساهمون: Dell'Elice, A., Cini, G., Fornasarig, M., Armelao, F., Barana, D., Bianchi, F., Casalis Cavalchini, G. C., Maffe, A., Mammi, I., Pedroni, M., Percesepe, A., Sorrentini, I., Tibiletti, M., Maestro, R., Quaia, M., Viel, A.

مصطلحات موضوعية: monoallelic, MUTYH, pathogenic variant, polyposis

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000711273300001; firstpage:e1831; journal:MOLECULAR GENETICS & GENOMIC MEDICINE; http://hdl.handle.net/11381/2902786; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118184019

الاتاحة: http://hdl.handle.net/11381/2902786
https://doi.org/10.1002/mgg3.1831

المؤلفون: Ricci E., Fetta A., Garavelli L., Caraffi S., Ivanovski I., Bonanni P., Accorsi P., Giordano L., Pantaleoni C., Romeo A., Arena A., Bonetti S., Boni A., Chiarello D., Di Pisa V., Epifanio R., Faravelli F., Finardi E., Fiumara A., Grioni D., Mammi I., Negrin S., Osanni E., Raviglione F., Rivieri F., Rizzi R., Savasta S., Tarani L., Zanotta N., Dormi A., Vignoli A., Canevini M., Cordelli D. M.

المساهمون: Ricci E., Fetta A., Garavelli L., Caraffi S., Ivanovski I., Bonanni P., Accorsi P., Giordano L., Pantaleoni C., Romeo A., Arena A., Bonetti S., Boni A., Chiarello D., Di Pisa V., Epifanio R., Faravelli F., Finardi E., Fiumara A., Grioni D., Mammi I., Negrin S., Osanni E., Raviglione F., Rivieri F., Rizzi R., Savasta S., Tarani L., Zanotta N., Dormi A., Vignoli A., Canevini M., Cordelli D.M.

مصطلحات موضوعية: Age dependent pattern, Genetic epilepsy, MWS, ZEB2

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/34619538; info:eu-repo/semantics/altIdentifier/wos/WOS:000708572300004; volume:124; firstpage:108315; lastpage:108315; numberofpages:10; journal:EPILEPSY & BEHAVIOR; http://hdl.handle.net/11585/857157; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85118690797

الاتاحة: http://hdl.handle.net/11585/857157
https://doi.org/10.1016/j.yebeh.2021.108315

المؤلفون: Cordeddu V., Macke E. L., Radio F. C., Lo Cicero S., Pantaleoni F., Tatti M., Bellacchio E., Ciolfi A., Agolini E., Bruselles A., Brunetti-Pierri N., Suri M., Josephs K. S., McEntagart M., Lanpher B., Nickels K. C., Haworth A., Reed L., Cappuccio G., Mammi I., Tarnowski J. M., Novelli A., Melis D., Callewaert B., Dallapiccola B., Klee E., Tartaglia M.

المساهمون: Cordeddu, V., Macke, E. L., Radio, F. C., Lo Cicero, S., Pantaleoni, F., Tatti, M., Bellacchio, E., Ciolfi, A., Agolini, E., Bruselles, A., Brunetti-Pierri, N., Suri, M., Josephs, K. S., Mcentagart, M., Lanpher, B., Nickels, K. C., Haworth, A., Reed, L., Cappuccio, G., Mammi, I., Tarnowski, J. M., Novelli, A., Melis, D., Callewaert, B., Dallapiccola, B., Klee, E., Tartaglia, M.

مصطلحات موضوعية: clinical variation, genotype-phenotype correlation, intellectual disability Nascimento type, mutation spectrum, UBE2A

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/32415735; info:eu-repo/semantics/altIdentifier/wos/WOS:000537281100001; firstpage:1; lastpage:7; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11386/4803798; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85085871295

الاتاحة: http://hdl.handle.net/11386/4803798
https://doi.org/10.1111/cge.13775

المؤلفون: Galuppini F., Opocher E., Tabori U., Mammi I., Edwards M., Campbell B., Kelly J., Viel A., Quaia M., Rivieri F., D'Avella D., Arcella A., Giangaspero F., Fassan M., Gardiman M. P.

المساهمون: Galuppini, F., Opocher, E., Tabori, U., Mammi, I., Edwards, M., Campbell, B., Kelly, J., Viel, A., Quaia, M., Rivieri, F., D'Avella, D., Arcella, A., Giangaspero, F., Fassan, M., Gardiman, M. P.

مصطلحات موضوعية: astrocytoma, brain neoplasm, cerebellar neoplasm, child, colorectal neoplasm, female, glioblastoma, human, isocitrate dehydrogenase, mutation, neoplasms multiple primary, neoplastic syndrome, hereditary

Relation: info:eu-repo/semantics/altIdentifier/pmid/29130549; info:eu-repo/semantics/altIdentifier/wos/WOS:000425641000011; volume:44; issue:2; firstpage:233; lastpage:239; numberofpages:7; journal:NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY; http://hdl.handle.net/11573/1301661; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85042370767

الاتاحة: http://hdl.handle.net/11573/1301661
https://doi.org/10.1111/nan.12450

المؤلفون: Della Puppa, A., Drigo, P., Mammi, I., Amistà, P., Iavicoli, R., Battistella, P.A., Carollo, C.

المصدر: Rivista di Neuroradiologia ; volume 6, issue 4, page 419-427 ; ISSN 1120-9976

الاتاحة: https://doi.org/10.1177/197140099300600407
https://journals.sagepub.com/doi/pdf/10.1177/197140099300600407

المؤلفون: Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR

المساهمون: Garavelli, L, Ivanovski, I, Caraffi, Sg, Santodirocco, D, Pollazzon, M, Cordelli, Dm, Abdalla, E, Accorsi, P, Adam, Mp, Baldo, C, Bayat, A, Belligni, E, Bonvicini, F, Breckpot, J, Callewaert, B, Cocchi, G, Cuturilo, G, Devriendt, K, Dinulos, Mb, Djuric, O, Epifanio, R, Faravelli, F, Formisano, D, Giordano, L, Grasso, M, Grønborg, S, Iodice, A, Iughetti, L, Lacombe, D, Maggi, M, Malbora, B, Mammi, I, Moutton, S, Møller, R, Muschke, P, Napoli, M, Pantaleoni, C, Pascarella, R, Pellicciari, A, Poch-Olive, Ml, Raviglione, F, Rivieri, F, Russo, C, Savasta, S, Scarano, G, Selicorni, A, Silengo, M, Sorge, G, Tarani, L, Tone, Lg, Toutain, A, Trimouille, A, Valera, Et, Vergano, S, Zanotta, N, Zollino, M, Dobyns, Wb, Paciorkowski, Ar

مصطلحات موضوعية: agenesis of corpus callosum, brain MRI, Genotype-phenotype correlation Mowat-wilson syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/27831545; info:eu-repo/semantics/altIdentifier/wos/WOS:000402517400012; volume:19; issue:6; firstpage:691; lastpage:700; numberofpages:10; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11584/349546; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020205876

الاتاحة: https://hdl.handle.net/11584/349546
https://doi.org/10.1038/gim.2016.176

المؤلفون: Garavelli, L, Ivanovski, I, Caraffi, SG, Santodirocco, D, Pollazzon, M, Cordelli, DM, Abdalla, E, Accorsi, P, Adam, MP, Ajmone, P, Badura-Stronka, M, Baldo, C, Bayat, A, Belligni, E, Bigoni, S, Bonvicini, F, Breckpot, Jeroen, Callewaert, B, Gocchi, G, Cuturilo, G, De Brasi, D, Devriendt, Koenraad, Dinulos, MB, Djuric, O, Duelund HJortshoj, T, Epifanio, R, Faravelli, F, Fiumara, A, Formisano, D, Giordano, L, Grasso, M, Gronborg, S, Iodice, A, Iughetti, L, Kuburovic, V, Kutkowska-Kazmierczak, A, Lacombe, D, Lo Rizzo, C, Luchetti, A, Malbora, B, Mammi, I, Mari, F, Moutton, S, Moller, R, Muschke, P, Obersztyn, E, Pantaleoni, C, Pellicciari, A, Pisanti, MA, Poch Olive, ML, Raviglione, F, Rivieri, F, Savasta, S, Scarano, G, Schanze, I, Selicorni, A, Silengo, M, Smigiel, R, Spaccini, L, Sorge, G, Szczaluba, K, Tarani, L, Gonzaga Tone, L, Toutain, A, Trimouille, A, Terci Valera, E, Schrier Vergano, S, Zanotta, N, Zenker, M, Zollino, M, Zweieer, C, Dobyns, WB, Paciorkowski, AR

Relation: Genetic Counseling vol:27 issue:4 pages:550-553; Twenty-seventh European meeting on Dysmorphology location:Strasbourg, France date:7-9 September 2016; https://lirias.kuleuven.be/handle/123456789/560172

الاتاحة: https://lirias.kuleuven.be/handle/123456789/560172

المؤلفون: Karnebeek, C.D. van, Bonafe, L., Wen, X.Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A.M., Garavelli, L., Mammi, I., Turolla, L., Breen, C., Donnai, D., Cormier, V., Heron, D., Nishimura, G., Uchikawa, S., Campos-Xavier, B., Rossi, A., Hennet, T., Brand-Arzamendi, K., Rozmus, J., Harshman, K., Stevenson, B.J., Girardi, E., Superti-Furga, G., Dewan, T., Collingridge, A., Halparin, J., Ross, C.J., Allen, M.I. van, Rossi, A, Engelke, U.F.H., Kluijtmans, L.A., Heeft, E. van der, Renkema, H., Brouwer, A.P.M. de, Huijben, K., Zijlstra, F.S., Heisse, T., Boltje, T.J., Wasserman, W.W., Rivolta, C., Unger, S., Lefeber, D.J., Wevers, R.A., Superti-Furga, A.

المصدر: Nature Genetics, 49, 6, pp. 969-969

مصطلحات موضوعية: Radboudumc 0: Other Research RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Synthetic Organic Chemistry

Relation: http://hdl.handle.net/2066/174072

الاتاحة: http://hdl.handle.net/2066/174072
https://doi.org/10.1038/ng0617-969a

المؤلفون: Ivanovski, I. (Ivan), Djuric, O. (Olivera), Caraffi, S.G. (Stefano Giuseppe), Santodirocco, D. (Daniela), Pollazzon, M. (Marzia), Rosato, S. (Simonetta), Cordelli, D.M. (Duccio M.), Abdalla, E. (Ebtesam), Accorsi, P. (Patrizia), Adam, M.P. (Margaret), Ajmone, P.F. (Paola Francesca), Badura-Stronka, M. (Magdalena), Baldo, C. (Chiara), Baldi, M. (Maddalena), Bayat, A. (Allan), Bigoni, S. (Stefania), Bonvicini, F. (Federico), Breckpot, J. (Jeroen), Callewaert, L., Cocchi, G. (Guido), Cuturilo, G. (Goran), De Brasi, D. (Daniele), Devriendt, K. (Koenraad), Dinulos, M.B. (Mary Beth), Hjortshøj, T.D. (Tina Duelund), Epifanio, R. (Roberta), Faravelli, F. (Francesca), Fiumara, A. (Agata), Formisano, D. (Debora), Giordano, L. (Lucio), Grasso, M. (Marina), Grønborg, S. (Sabine), Iodice, A. (Alessandro), Iughetti, L. (Lorenzo), Kuburovic, V. (Vladimir), Kutkowska-Kazmierczak, A. (Anna), Lacombe, D. (Didier), Lo Rizzo, C. (Caterina), Luchetti, A. (Anna), Malbora, B. (Baris), Mammi, I. (Isabella), Mari, F. (Francesca), Montorsi, G. (Giulia), Moutton, S. (Sebastien), Møller, R.S. (Rikke), Muschke, P. (Petra), Nielsen, J.E.K. (Jens Erik Klint), Obersztyn, E. (Ewa), Pantaleoni, C. (Chiara), Pellicciari, A. (Alessandro), Pisanti, M.A. (Maria Antonietta), Prpic, I. (Igor), Poch-Olive, M.L. (Maria Luisa), Raviglione, F. (Federico), Renieri, A. (Alessandra), Ricci, E. (Emilia), Rivieri, F. (Francesca), Santen, G.W.E. (Gijs), Savasta, S. (Salvatore), Scarano, G. (Gioacchino), Schanze, I. (Ina), Selicorni, A. (Angelo), Silengo, M.C., Smigiel, R. (Robert), Spaccini, L. (Luigina), Sorge, G. (Giovanni), Szczaluba, K. (Krzysztof), Tarani, L. (Luigi), Tone, L.G. (Luis Gonzaga), Toutain, A. (Annick), Trimouille, A. (Aurelien), Valera, E.T. (Elvis Terci), Vergano, S.S. (Samantha Schrier), Zanotta, N. (Nicoletta), Zenker, M. (Martin), Conidi, A. (Andrea), Zollino, M., Rauch, A., Zweier, C. (Christiane), Garavelli, L. (Livia)

مصطلحات الفهرس: Hirschsprung, intellectual disability, management, Mowat–Wilson syndrome, ZEB2, info:eu-repo/semantics/article

URL: http://repub.eur.nl/pub/114496

المؤلفون: TOLDO, IRENE, MAMMI I., CAROLLO C., BATTISTELLA, PIER ANTONIO, DRIGO, PAOLA

المساهمون: Toldo, Irene, Battistella, PIER ANTONIO, Mammi, I., Carollo, C., Drigo, Paola

وصف الملف: STAMPA

Relation: ispartofbook:XXXI Congresso Nazionale della Società Italiana di Neurologia Pediatrica; firstpage:138; lastpage:138; numberofpages:1; http://hdl.handle.net/11577/2448778

الاتاحة: http://hdl.handle.net/11577/2448778

المؤلفون: van Karnebeek, C.D., Bonafé, L., Wen, X.Y., Tarailo-Graovac, M., Balzano, S., Royer-Bertrand, B., Ashikov, A., Garavelli, L., Mammi, I., Turolla, L., Breen, C., Donnai, D., Cormier, V., Heron, D., Nishimura, G., Uchikawa, S., Campos-Xavier, B., Rossi, A., Hennet, T., Brand-Arzamendi, K., Rozmus, J., Harshman, K., Stevenson, B.J., Girardi, E., Superti-Furga, G., Dewan, T., Collingridge, A., Halparin, J., Ross, C.J., Van Allen, M.I., Engelke, U.F., Kluijtmans, L.A., van der Heeft, E., Renkema, H., de Brouwer, A., Huijben, K., Zijlstra, F., Heisse, T., Boltje, T., Wasserman, W.W., Rivolta, C., Unger, S., Lefeber, D.J., Wevers, R.A., Superti-Furga, A.

المصدر: Nature Genetics, vol. 48, no. 7, pp. 777-784

Relation: info:eu-repo/semantics/altIdentifier/pmid/27213289; info:eu-repo/semantics/altIdentifier/eissn/1546-1718; https://serval.unil.ch/notice/serval:BIB_71E97DD0E8A8

الاتاحة: https://serval.unil.ch/notice/serval:BIB_71E97DD0E8A8
https://doi.org/10.1038/ng.3578

المؤلفون: Cordelli DM, Garavelli L, Savasta S, Guerra A, Pellicciari A, Giordano L, Bonetti S, Cecconi I, Wischmeijer A, Seri M, Rosato S, Gelmini C, Della Giustina E, Ferrari AR, Zanotta N, Epifanio R, Grioni D, Malbora B, Mammi I, Mostardini R, Pantaleoni C, Doz M, Poch Olivé ML, Rivieri F, Sorge G, Simonte G, Licata F, Tarani L, Terazzi E, Mazzanti L, Cerruti Mainardi P, Boni A, Faravelli F, Grasso M, Bianchi P, Zollino M, Franzoni E., MARI, FRANCESCA, BUONI, SABRINA, GROSSO, SALVATORE

المساهمون: Cordelli, Dm, Garavelli, L, Savasta, S, Guerra, A, Pellicciari, A, Giordano, L, Bonetti, S, Cecconi, I, Wischmeijer, A, Seri, M, Rosato, S, Gelmini, C, Della Giustina, E, Ferrari, Ar, Zanotta, N, Epifanio, R, Grioni, D, Malbora, B, Mammi, I, Mari, Francesca, Buoni, Sabrina, Mostardini, R, Grosso, Salvatore, Pantaleoni, C, Doz, M, Poch Olivé, Ml, Rivieri, F, Sorge, G, Simonte, G, Licata, F, Tarani, L, Terazzi, E, Mazzanti, L, Cerruti Mainardi, P, Boni, A, Faravelli, F, Grasso, M, Bianchi, P, Zollino, M, Franzoni, E.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23322667; info:eu-repo/semantics/altIdentifier/wos/WOS:000314150600008; volume:161; issue:2; firstpage:273; lastpage:284; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11365/43728; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84872913059

الاتاحة: http://hdl.handle.net/11365/43728
https://doi.org/10.1002/ajmg.a.35717