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: 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: Leone M. P., Morlino S., Nardella G., Pracella R., Giachino D., Celli L., Baldo D., Turolla L., Piccione M., Salzano E., Busè M., Lastella P., Zollino M., Cantone R., Grosso E., Zonta A., Pasini B., Piscopo C., De Maggio I., Priolo M., Mammi C., Foiadelli T., Trabatti C., Savasta S., Iolascon A., Ferraris A., Lodato V., Di Giosaffatte N., Majore S., Selicorni A., Petracca A., Fusco C., Celli M., Guarnieri V., Micale L., Castori M.

المساهمون: Leone M.P., Morlino S., Nardella G., Pracella R., Giachino D., Celli L., Baldo D., Turolla L., Piccione M., Salzano E., Busè M., Lastella P., Zollino M., Cantone R., Grosso E., Zonta A., Pasini B., Piscopo C., De Maggio I., Priolo M., Mammi C., Foiadelli T., Trabatti C., Savasta S., Iolascon A., Ferraris A., Lodato V., Di Giosaffatte N., Majore S., Selicorni A., Petracca A., Fusco C., Celli M., Guarnieri V., Micale L., Castori M.

مصطلحات موضوعية: ACMG/AMP criteria, variants in collagen genes, joint hypermobility

Relation: info:eu-repo/semantics/altIdentifier/pmid/37079061; info:eu-repo/semantics/altIdentifier/wos/WOS:000971522000001; volume:142; issue:6; firstpage:785; lastpage:808; numberofpages:24; journal:HUMAN GENETICS; https://hdl.handle.net/10447/596353

الاتاحة: https://hdl.handle.net/10447/596353
https://doi.org/10.1007/s00439-023-02547-z

المؤلفون: Vera, G, Sorlin, A, Delplancq, G, Lecoquierre, F, Brasseur-Daudruy, M, Petit, F, Smol, T, Ziegler, A, Bonneau, D, Colin, E, Mercier, S, Cogné, B, Bézieau, S, Edery, P, Lesca, G, Chatron, N, Sabatier, I, Duban-Bedu, B, Colson, C, Piton, A, Durand, B, Capri, Y, Perrin, L, Wiesener, A, Zweier, C, Maroofian, R, Carroll, CJ, Galehdari, H, Mazaheri, N, Callewaert, B, Giulianno, F, Zaafrane-Khachnaoui, K, Buchert-Lo, R, Haack, T, Magg, J, Rieß, A, Blandfort, M, Waldmüller, S, Horber, V, Leonardi, E, Polli, R, Turolla, L, Murgia, A, Frebourg, T, Lebre, AS, Nicolas, G, Saugier-Veber, P, Guerrot, AM

المصدر: European Journal of Medical Genetics , 63 (10) , Article 104004. (2020)

مصطلحات موضوعية: Developmental delay, GATAD2B, Intellectual disability, Next-generation sequencing, Adolescent, Adult, Brain, Child, Preschool, Face, Female, GATA Transcription Factors, High-Throughput Nucleotide Sequencing, Humans, Infant, Magnetic Resonance Imaging, Male, Megalencephaly, Muscle Hypotonia, Neurodevelopmental Disorders, Phenotype, Pregnancy, Repressor Proteins, Sequence Deletion, Speech Disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf; https://discovery.ucl.ac.uk/id/eprint/10146514/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10146514/1/1-s2.0-S1769721220305073-am.pdf
https://discovery.ucl.ac.uk/id/eprint/10146514/

المؤلفون: Fernández, E., Gennaro, E., Pirozzi, F., Baldo, C., Forzano, F., Turolla, L., Faravelli, F., Gastaldo, D., Coviello, D., Grasso, M., Bagni, C.

المصدر: Frontiers in Genetics, vol. 9, pp. 442

مصطلحات موضوعية: CGG expansion, FMR1 mRNA, FMRP, fragile X syndrome, mosaicism

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/30450110; info:eu-repo/semantics/altIdentifier/pissn/1664-8021; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_CA961EE72B816; https://serval.unil.ch/notice/serval:BIB_CA961EE72B81; https://serval.unil.ch/resource/serval:BIB_CA961EE72B81.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_CA961EE72B81
https://doi.org/10.3389/fgene.2018.00442
https://serval.unil.ch/resource/serval:BIB_CA961EE72B81.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_CA961EE72B816

المؤلفون: Grozeva D, Carss K, Spasic Boskovic O, Tejada MI, Gecz J, Shaw M, Corbett M, Haan E, Thompson E, Friend K, Hussain Z, Hackett A, Field M, Renieri A, Stevenson R, Schwartz C, Floyd JA, Bentham J, Cosgrove C, Keavney B, Bhattacharya S, Italian X. linked Mental Retardation Project, UK10K Consortium, GOLD Consortium, Hurles M, Raymond F.L. Strangoni G, D' Avanzo G, Carnevale F, RESTA, Nicoletta, Scarano G, Mazzanti L, Borgatti R, Parini B, Marchina E, Strisciuglio P, Cavalli P, Bigoni S, Zammarchi E, Faravelli F, Di Rocco M, Lerone M, Gaslini G, D'Alessandro E, Selicorni A, Pantaleoni C, Bedeschi F, Rinaldi MM, Tenconi R, Verri A, Battaglia A, Guerrini R, Priolo M, Garavelli L, Neri G, Pergola M, Galasso C, Zelante L, Ferrero G, Memo L, Turolla L, Hladnik U, Romano C, Durbin R, Barrett J, Barroso I, Davey Smith G, Farooqi IS, O' Rahilly S, Palotie A, Soranzo N, Spector T, Zeggini E, Beales P, Blackwood D, Bolton P, Breen G, Chatterjee K, Collier D, Fitzpatrick D, Gallagher L, Geschwind D, Gurling H, Humphries S, McGuffin P, Monaco A, Muntoni F, Owen M, Raymond L, Savage D, Scambler P, Semple R, Skuse D, St Clair D, Timpson N, Van der Aa N, Ahmed A, Ajith VK, Archer H, Armstrong R, Balasubramanian M, Baralle D, Barnicoat A, Bennett C, Bernhard B, Bianciardi L, Bitner Glindzicz M, Blair E, van Bokhoven H, van Bon B, Bradley L, Brady A, Brewer C, Brunner H, Burke M, Caliebe A, Canham N, Castle B, Chandler K, Clarke A, Clayton Smith J, Clowes V, Cole T, Collins A, Cook J, Coughlin C, Cowe A, Cox H, Crow Y, Dabir T, Davies S, Deshpande D, Diderich KE, Dolling C, Donnai D, Donnelly D, Dooijes D, Dupont J, Ellis I, Van Esch H, De Filippis R, Firth H, Fisher R, Foulds N, Franco B, Fry A, Fryer A, Fuchs G, Garcia S, Gardiner C, Gibbons R, Goodship J, Green A, Greenhalgh L, Guanti G, Guilbert P, Halest MV, Haroon M, Harvey J, Henderson A, Hennekam R, Holden S, Holder S, Homfray T, Hurst J, Ionnides A, Jarvis J, Johnson DS, Jones E, Jones L, Jongmans M, Josifova D, Joss S, Kenny J, Kerr B, Kingston H, Kini U, Kivuva E, Kooy F, Kraus A, Kurian M, Lachlan K, Lam W, Lees M, Lindsay S, Longman C, Lynch S, Magee A, Van Maldergem L, Male A, Mari F, McConnell V, McGeb A, McKee S, McKeown C, McWilliam C, Medeira A, Mehta S, Metcalfe K, Mohammed S, Morton J, Murday V, Newbury Ecob R, Nik Zainal' S, Norman A, Park SM, Parker MJ, Prescott K, Price S, Procter A, Quarrell O, Rankin J, Rea G, Reardon W, Robert L, Rosser E, Sandford R, Scott R, Scurr I, Senger G, Sharif S, Shaw A, Shaw C, Shears D, Smithson S, Splitt M, Stewart A, Stewart F, Stewart H, Suri M, Sweeney E, Taffinder S, Tanteles G, Temple K, Thompson J, Tocher J, Tomkins S, Turner C, Turnpenny P, Vanderstein A, Vasudevan P, Villard L, Visser L, Wakeling E, Weber A, Williams D, Wilson L, Woods G, Wright M, Writzl K, Yates L.

المساهمون: Grozeva, D, Carss, K, Spasic Boskovic, O, Tejada, Mi, Gecz, J, Shaw, M, Corbett, M, Haan, E, Thompson, E, Friend, K, Hussain, Z, Hackett, A, Field, M, Renieri, A, Stevenson, R, Schwartz, C, Floyd, Ja, Bentham, J, Cosgrove, C, Keavney, B, Bhattacharya, S, Italian X., linked Mental Retardation Project, Uk10k, Consortium, Gold, Consortium, Hurles, M, Strangoni G, Raymond F. L., D' Avanzo, G, Carnevale, F, Resta, Nicoletta, Scarano, G, Mazzanti, L, Borgatti, R, Parini, B, Marchina, E, Strisciuglio, P, Cavalli, P, Bigoni, S, Zammarchi, E, Faravelli, F, Di Rocco, M, Lerone, M, Gaslini, G, D'Alessandro, E, Selicorni, A, Pantaleoni, C, Bedeschi, F, Rinaldi, Mm, Tenconi, R, Verri, A, Battaglia, A, Guerrini, R, Priolo, M, Garavelli, L, Neri, G, Pergola, M, Galasso, C, Zelante, L, Ferrero, G, Memo, L, Turolla, L, Hladnik, U, Romano, C, Durbin, R, Barrett, J, Barroso, I, Davey Smith, G, Farooqi, I, O' Rahilly, S, Palotie, A, Soranzo, N, Spector, T, Zeggini, E, Beales, P, Blackwood, D, Bolton, P, Breen, G, Chatterjee, K, Collier, D, Fitzpatrick, D, Gallagher, L, Geschwind, D, Gurling, H, Humphries, S, Mcguffin, P, Monaco, A, Muntoni, F, Owen, M, Raymond, L, Savage, D, Scambler, P, Semple, R, Skuse, D, St Clair, D, Timpson, N, Van der Aa, N, Ahmed, A

مصطلحات موضوعية: SETD5, ATRX, CUL4B, MECP2

Relation: info:eu-repo/semantics/altIdentifier/pmid/26350204; info:eu-repo/semantics/altIdentifier/wos/WOS:000364788500012; volume:36; issue:12; firstpage:1197; lastpage:1204; numberofpages:8; journal:HUMAN MUTATION; http://hdl.handle.net/11586/178176; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84947019265

الاتاحة: http://hdl.handle.net/11586/178176
https://doi.org/10.1002/humu.22901

المؤلفون: Morgan A., Dipresa S., Turolla L., La Bianca M., Faletra F., Girotto G.

المساهمون: Morgan, A., Dipresa, S., Turolla, L., La Bianca, M., Faletra, F., Girotto, G.

مصطلحات موضوعية: TAR syndrome, noncoding variant, etiopathogenesis of disease

Relation: info:eu-repo/semantics/altIdentifier/pmid/33559987; info:eu-repo/semantics/altIdentifier/wos/WOS:000596413700001; volume:42; issue:2; firstpage:213; lastpage:215; numberofpages:3; journal:HUMAN MUTATION; http://hdl.handle.net/11368/2980338; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097263459

الاتاحة: http://hdl.handle.net/11368/2980338
https://doi.org/10.1002/humu.24145
https://onlinelibrary.wiley.com/doi/10.1002/humu.24145

المؤلفون: Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G., CIRILLO, Margherita, BELLIGNI, ELGA FABIA

المساهمون: Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21658225; info:eu-repo/semantics/altIdentifier/wos/WOS:000292963700001; volume:6; firstpage:38; lastpage:46; numberofpages:9; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/2318/91174; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79958047953; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141365/

الاتاحة: http://hdl.handle.net/2318/91174
https://doi.org/10.1186/1750-1172-6-38
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3141365/

المؤلفون: Tran, C., Turolla, L., Ballhausen, D., Buros, S.C., Teav, T., Gallart-Ayala, H., Ivanisevic, J., Faouzi, M., Lefeber, D.J., Ivanovski, I., Giangiobbe, S., Caraffi, S.G., Garavelli, L., Superti-Furga, A.

المصدر: Molecular Genetics and Metabolism Reports, 28

مصطلحات موضوعية: Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/238690/238690.pdf; https://repository.ubn.ru.nl/handle/2066/238690; https://doi.org/10.1016/j.ymgmr.2021.100777

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/238690/238690.pdf
https://repository.ubn.ru.nl/handle/2066/238690
https://doi.org/10.1016/j.ymgmr.2021.100777

المؤلفون: Grati, F R, Turolla, L, D’Ajello, P, Ruggeri, A, Miozzo, M, Bracalente, G, Baldo, D, Laurino, L, Boldorini, R, Frate, E, Surico, N, Larizza, L, Maggi, F, Simoni, G

مصطلحات موضوعية: Original articles

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/44/4/257; http://dx.doi.org/10.1136/jmg.2006.046854

الاتاحة: http://jmg.bmj.com/cgi/content/short/44/4/257
https://doi.org/10.1136/jmg.2006.046854

المؤلفون: Turolla, L, Clementi, M, Tenconi, R

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/27/8/516; http://dx.doi.org/10.1136/jmg.27.8.516

الاتاحة: http://jmg.bmj.com/cgi/content/short/27/8/516
https://doi.org/10.1136/jmg.27.8.516

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: 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: LO VASCO, VINCENZA RITA, TUROLLA L, FRATE E.

المساهمون: LO VASCO, VINCENZA RITA, Turolla, L, Frate, E.

Relation: ispartofbook:III Congresso Nazionale SIGU; http://hdl.handle.net/11573/205938

الاتاحة: http://hdl.handle.net/11573/205938

المؤلفون: Micale L., Augello B., Fusco C., Selicorni A., Loviglio M. N., Silengo M. C., Reymond A., Gumiero B., Zucchetti F., D'Addetta E. V., Belligni E., Calcagnì A., Digilio M. C., Dallapiccola B., Faravelli F., Forzano F., Accadia M., Bonfante A., Clementi M., Daolio C., Douzgou S., Ferrari P., Fischetto R., Garavelli L., Lapi E., Mattina T., Melis D., Patricelli M. G., Priolo M., Prontera P., Renieri A., Mencarelli M. A., Scarano G., della Monica M., Toschi B., Turolla L., Vancini A., Zatterale A., Zelante L., Merla G., GABRIELLI, ORAZIO

المساهمون: Micale, L., Augello, B., Fusco, C., Selicorni, A., Loviglio, M. N., Silengo, M. C., Reymond, A., Gumiero, B., Gabrielli, Orazio, Zucchetti, F., D'Addetta, E. V., Belligni, E., Calcagnì, A., Digilio, M. C., Dallapiccola, B., Faravelli, F., Forzano, F., Accadia, M., Bonfante, A., Clementi, M., Daolio, C., Douzgou, S., Ferrari, P., Fischetto, R., Garavelli, L., Lapi, E., Mattina, T., Melis, D., Patricelli, M. G., Priolo, M., Prontera, P., Renieri, A., Mencarelli, M. A., Scarano, G., della Monica, M., Toschi, B., Turolla, L., Vancini, A., Zatterale, A., Zelante, L., Merla, G.

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/21658225; info:eu-repo/semantics/altIdentifier/wos/WOS:000292963700001; volume:9; issue:6; firstpage:38; journal:ORPHANET JOURNAL OF RARE DISEASES; http://hdl.handle.net/11566/84146; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79958047953

الاتاحة: http://hdl.handle.net/11566/84146

المؤلفون: CABERLOTTO L, TUROLLA L, MENEGHEL M, LO VASCO, VINCENZA RITA

المساهمون: Caberlotto, L, Turolla, L, Meneghel, M, LO VASCO, VINCENZA RITA

وصف الملف: STAMPA

Relation: ispartofbook:17th International and 13th European Congress of Clinical Chemistry and Laborato; http://hdl.handle.net/11573/207908

الاتاحة: http://hdl.handle.net/11573/207908

المؤلفون: LO VASCO, VINCENZA RITA, BORTOTTO L, FRATE E, CUSIN V, TUROLLA L.

المساهمون: LO VASCO, VINCENZA RITA, Bortotto, L, Frate, E, Cusin, V, Turolla, L.

Relation: ispartofbook:II Congresso Nazionale SIGU; http://hdl.handle.net/11573/205937

الاتاحة: http://hdl.handle.net/11573/205937

المؤلفون: CUSIN V, FRATE E, SANTARINI L, TUROLLA L., LO VASCO, VINCENZA RITA

المساهمون: Cusin, V, Frate, E, LO VASCO, VINCENZA RITA, Santarini, L, Turolla, L.

Relation: ispartofbook:II Congresso Nazionale SIGU; http://hdl.handle.net/11573/205940

الاتاحة: http://hdl.handle.net/11573/205940

المؤلفون: FRATE E, CUSIN V, SIVOLELLA S, TUROLLA L., LO VASCO, VINCENZA RITA

المساهمون: Frate, E, Cusin, V, LO VASCO, VINCENZA RITA, Sivolella, S, Turolla, L.

Relation: ispartofbook:II Congresso Nazionale SIGU; http://hdl.handle.net/11573/207907

الاتاحة: http://hdl.handle.net/11573/207907

المؤلفون: BACARINI L, TUROLLA L, CAMMISA M, GUGLIELMI, GIUSEPPE

المساهمون: Bacarini, L, Turolla, L, Cammisa, M, Guglielmi, Giuseppe

Relation: ispartofbook:Trattato Italiano di Tomografia Computerizzata; firstpage:573; lastpage:602; http://hdl.handle.net/11369/11870

الاتاحة: http://hdl.handle.net/11369/11870