المؤلفون: Abruzzo, T, van den Berg, R, Vadivelu, S, Hetts, SW, Dishop, M, Cornejo, P, Narayanan, V, Ramsey, KE, Coopwood, C, Herik, EG Medici-van den, Roosendaal, SD, Lawton, M, Bernes, S

المصدر: American Journal of Neuroradiology. 43(7)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Pediatric, Physical Injury - Accidents and Adverse Effects, Neurodegenerative, Rare Diseases, Traumatic Head and Spine Injury, Spinal Cord Injury, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Neurological, Angiography, Child, Humans, Magnetic Resonance Imaging, Retrospective Studies, Spinal Cord, Spinal Cord Diseases, Nuclear Medicine & Medical Imaging, Clinical sciences, Physical chemistry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8216w7n6

المؤلفون: Escudero, R., Morales, F., Bernes, S.

مصطلحات موضوعية: Condensed Matter - Superconductivity

URL الوصول: http://arxiv.org/abs/0907.0411

المؤلفون: Hilario-Martínez, JC, Murillo, F, García-Méndez, J, Dzib, E, Sandoval-Ramírez, J, Muñoz-Hernández, MÁ, Bernès, S, Kürti, L, Duarte Gonzalez, FJ, Merino, G, Fernández-Herrera, MA

Relation: https://ora.ox.ac.uk/objects/uuid:40cd46df-4f24-4ea9-9333-11b2dde0d272; https://doi.org/10.1039/d0sc01701a

الاتاحة: https://doi.org/10.1039/d0sc01701a
https://ora.ox.ac.uk/objects/uuid:40cd46df-4f24-4ea9-9333-11b2dde0d272

المؤلفون: Abruzzo, T., van den Berg, R., Vadivelu, S., Hetts, S. W., Dishop, M., Cornejo, P., Narayanan, V., Ramsey, K. E., Coopwood, C., Medici-van den Herik, E. G., Roosendaal, S. D., Lawton, M., Bernes, S.

المصدر: Abruzzo , T , van den Berg , R , Vadivelu , S , Hetts , S W , Dishop , M , Cornejo , P , Narayanan , V , Ramsey , K E , Coopwood , C , Medici-van den Herik , E G , Roosendaal , S D , Lawton , M & Bernes , S 2022 , ' Arterioectatic Spinal Angiopathy of Childhood : Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology ' , AJNR. American journal of neuroradiology , vol. 43 , no. 7 , pp. 1060-1067 . https://doi.org/10.3174/ajnr.a7551

الاتاحة: https://pure.eur.nl/en/publications/7556ea36-70e6-48e6-b195-56d43015d630
https://doi.org/10.3174/ajnr.a7551
http://www.scopus.com/inward/record.url?scp=85134361257&partnerID=8YFLogxK

المؤلفون: Setifi, Z., Bernès, S., Geiger, D.K., Setifi, F., Reedijk, J.

المصدر: Acta Crystallographica Section C: Structural Chemistry

Relation: lucris-id: 442020814; https://hdl.handle.net/1887/3453382

الاتاحة: https://hdl.handle.net/1887/3453382
https://doi.org/10.1107/S2053229622006908

المؤلفون: García-Ramírez, E.I., Ruiz-Bernés, S., Beas-Medina, M.G., López-Solís, J.

المصدر: Revista Bio Ciencias, Vol 3, Iss 4, Pp 340-348 (2016)

مصطلحات موضوعية: Potential evapotranspiration, modified Fournier index, water erosion, Agriculture, Environmental sciences, GE1-350

Relation: http://editorial.uan.edu.mx/BIOCIENCIAS/article/view/181/229; https://doaj.org/toc/2007-3380; http://dx.doi.org/10.15741/revbio.03.04.08; https://doaj.org/article/10100494035240fabb5dc017ce2a90b2

الاتاحة: https://doi.org/10.15741/revbio.03.04.08
https://doaj.org/article/10100494035240fabb5dc017ce2a90b2

المؤلفون: Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L, International JSRD Study Group, Dallapiccola B, Gleeson JG, Valente EM Collaborators Leventer R, Grattan Smith P, Janecke A, D'Hooghe M, Van Coster R, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Abdel Salam GM, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Stuart B, Magee A, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia S, Giordano L, Pinelli L, Boccone L, Ruggieri M, BIGONI, Stefania, FERLINI, Alessandra, Donati MA, Procopio E, Caridi G, Faravelli F, Ghiggeri G, Briuglia S, Salpietro CD, Tortorella G, D'Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Battini R, Cilio MR, Di Sabato M, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, de Jong MM, Koul R, Rajab A, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Kayserili H, Comu S, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Hennekam R, Lees M, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

المساهمون: Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, Jl, Barrano, G, Bertini, E, Emma, F, Rigoli, L, International JSRD Study, Group, Dallapiccola, B, Gleeson, Jg, Valente EM Collaborators Leventer, R, Grattan Smith, P, Janecke, A, D'Hooghe, M, Van Coster, R, Dias, K, Moco, C, Moreira, A, Kim, Ca, Maegawa, G, Abdel Salam, Gm, Abdel Aleem, A, Zaki, M, Marti, I, Quijano Roy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Stuart, B, Magee, A, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Pinelli, L, Boccone, L, Ruggieri, M, Bigoni, Stefania, Ferlini, Alessandra, Donati, Ma, Procopio, E, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Salpietro, Cd, Tortorella, G, D'Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari, Aa, Bastaki, L, de Jong, Mm, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Kayserili, H, Comu, S, Akcakus, M, Al Gazali, L, Sztriha, L, Nicholl, D, Woods, Cg, Bennett, C, Hurst, J, Hennekam, R, Lees, M, Bernes, S, Sanchez, H, Clark, Ae

مصطلحات موضوعية: Joubert syndrome-related disorder, molar tooth sign, nephronophthisi, RPGRIP1L

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/18565097; info:eu-repo/semantics/altIdentifier/wos/WOS:000257476200008; volume:74; issue:2; firstpage:164; lastpage:170; numberofpages:7; journal:CLINICAL GENETICS; http://hdl.handle.net/11392/533191; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdf

الاتاحة: http://hdl.handle.net/11392/533191
https://doi.org/10.1111/j.1399-0004.2008.01047.x
https://onlinelibrary.wiley.com/doi/10.1111/j.1399-0004.2008.01047.x
http://europepmc.org/backend/ptpmcrender.fcgi?accid=PMC2752690&blobtype=pdf

المؤلفون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thomas, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha L, Zankl A, Leventer R, Grattan Smith P, Janecke A, Koch J, Freilinger M, D'Hooghe M, Sznajer Y, Vilain C, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Ae Kim C, Maegawa G, Dakovic I, Loncarevic D, Mejaski Bosnjak V, Petkovic D, Abdel Salam GM, Abdel Aleem A, Marti I, Pinard JM, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Verloes A, Touraine R, Koenig M, Dollfus H, Flori E, Fradin M, Lagier Tourenne C, Messer J, Collignon P, Penzien JM, Bussmann C, Merkenschlager A, Philippi H, Kurlemann G, Grundmann K, Dacou Voutetakis C, Kitsiou Tzeli S, Pons R, Jerney J, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Girisha KM, Doshi H, Udani V, Kaul M, Stuart B, Magee A, Spiegel R, Shalev S, Mandel H, Lev D, Michelson M, Idit M, Ben Zeev B, Gershoni Baruch R, Ficcadenti A, Fischetto R, Gentile M, Della Monica M, Pezzani M, Graziano C, Seri M, Benedicenti F, Stanzial F, Borgatti R, Romaniello R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Barone R, Sorge G, Briatore E, Bigoni S, Ferlini A, Donati MA, Biancheri R, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Mirabelli M, Pessagno A, Rossi A, Uliana V, Amorini M, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Bonati MT, Castorina P, D'Arrigo S, Lalatta F, Marra G, Moroni I, Pantaleoni C, Riva D, Scelsa B, Spaccini L, Del Giudice E, Ludwig K, Permunian A, Suppiej A, Macaluso C, Pichiecchio A, Battini R, Di Giacomo M, Priolo M, Timpani P, Pagani G, Di Sabato ML, Emma F, Leuzzi V, Mancini F, Majore S, Micalizzi A, Parisi P, Romani M, Stringini G, Zanni G, Ulgheri L, Pollazzon, M, RENIERI, ALESSANDRA, Belligni E, Grosso E, Pieri I, Silengo M, Devescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, Said E, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Salih MA, Tabarki B, Jocic Jakubi B, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Gener B, Puschmann A, Starck L, Capone A, Lemke J, Fluss J, Niedrist D, Hennekam RC, Wolf N, Gouider Khouja N, Kraoua I, Ceylaner S, Teber S, Akgul M, Anlar B, Comu S, Kayserili H, Yüksel A, Akcakus M, Caglayan AO, Aldemir O, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hemingway C, Lees M, Wakeling E, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Karaca E, Swoboda KJ, Viskochil D, Dobyns WB, Colin, Johnson, Tania, Attié Bitach, Joseph, G. Gleeson, Enza, Maria Valente

المساهمون: Lorena, Travaglini, Francesco, Brancati, Jennifer, Silhavy, Miriam, Iannicelli, Elizabeth, Nickerson, Nadia, Elkhartoufi, Eric, Scott, Emily, Spencer, Stacey, Gabriel, Sophie, Thoma, Bruria, Ben Zeev, Enrico, Bertini, Eugen, Boltshauser, Malika, Chaouch, Maria, Roberta Cilio, Mirjam, M. de Jong, Hulya, Kayserili, Gonul, Ogur, Andrea, Poretti, Sabrina, Signorini, Graziella, Uziel, Maha, S. Zaki, Ali Pacha, L, Zankl, A, Leventer, R, Grattan Smith, P, Janecke, A, Koch, J, Freilinger, M, D'Hooghe, M, Sznajer, Y, Vilain, C, Van Coster, R, Demerleir, L, Dias, K, Moco, C, Moreira, A, Ae Kim, C, Maegawa, G, Dakovic, I, Loncarevic, D, Mejaski Bosnjak, V, Petkovic, D, Abdel Salam, Gm, Abdel Aleem, A, Marti, I, Pinard, Jm, Quijano Roy, S, Sigaudy, S, de Lonlay, P, Romano, S, Verloes, A, Touraine, R, Koenig, M, Dollfus, H, Flori, E, Fradin, M, Lagier Tourenne, C, Messer, J, Collignon, P, Penzien, Jm, Bussmann, C, Merkenschlager, A, Philippi, H, Kurlemann, G, Grundmann, K, Dacou Voutetakis, C, Kitsiou Tzeli, S, Pons, R, Jerney, J, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Phadke, Sr, Girisha, Km, Doshi, H, Udani, V, Kaul, M, Stuart, B, Magee, A, Spiegel, R, Shalev, S, Mandel, H, Lev, D, Michelson, M, Idit, M, Ben Zeev, B, Gershoni Baruch, R, Ficcadenti, A, Fischetto, R, Gentile, M, Della Monica, M, Pezzani, M, Graziano, C, Seri, M, Benedicenti, F, Stanzial, F, Borgatti, R, Romaniello, R, Accorsi, P

مصطلحات موضوعية: Ciliopathies, INPP5E, Joubert syndrome and related disorders, Meckel syndrome

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/23386033; info:eu-repo/semantics/altIdentifier/wos/WOS:000324727200014; ispartofbook:European Journal of Human Genetics; volume:21; issue:10; firstpage:1074; lastpage:1078; numberofpages:5; journal:EUROPEAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11365/960289; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

الاتاحة: http://hdl.handle.net/11365/960289
https://doi.org/10.1038/ejhg.2012.305

المؤلفون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R., Bigoni, S., Ferlini, A., Andreucci, E., Donati, M. A., Genuardi, M., Caridi, G., Divizia, M. T., Faravelli, F., Ghiggeri, G., Pessagno, A., Amorini, M., Briguglio, M., Briuglia, S., Rigoli, L., Salpietro, C., Tortorella, G., Adami, A., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Coppola, G., Del Giudice, E., Vitiello, G., Laverda, A. M., Ludwig, K., Permunian, A., Suppiej, A., Macaluso, C., Signorini, S., Uggetti, C., Battini, R., Priolo, M., Cilio, M. R., D'Amico, A., Di Sabato, M. L., Emma, F., Leuzzi, V., Parisi, P., Stringini, G., Zanni, G., Pollazzon, M., Renieri, A., Vascotto, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A. A., Bastaki, L., Mégarbané, A., Matuleviciene, A., Sabolic Avramovska, V., Said, E., De Jong, M. M., Prescott, T., Stromme, P., Von Der Lippe, C., Koul, R., Rajab, A., Azam, M., Barbot, C., Jocic-Jakubi, B., Gener Querol, B., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I., Strozzi, S., Fluss, J., Teber M, S., Topcu, M., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yüksel, A., Akgul, M., Akcakus, M., Al Gazali, L., Nicholl, D., Woods, C. G., Bennett, C., Hurst, J., Sheridan, E., Barnicoat, A., Carr, L., Hennekam, R., Lees, M., McKay, F., Yates, L., Blair, E., Bernes, S., Sanchez, H., Clark, A. E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T. D., Gallager, T. E., Dobyns, W. B., Daugherty, C., Krishnamoorthy, K. S., Sarco, D., Walsh, C. A., McKanna, T., Milisa, J., Chung, W. K., De Vivo, D. C., Raynes, H., Schubert, R., Seward, A., Brooks, D. G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B. L., Holden, K., Cruse, R. P., Swoboda, K. J., Viskochil, D.

المساهمون: Iannicelli, M., Brancati, F., Mougou-Zerelli, S., Mazzotta, A., Thomas, S., Elkhartoufi, N., Travaglini, L., Gomes, C., Ardissino, G. L., Bertini, E., Boltshauser, E., Castorina, P., D'Arrigo, S., Fischetto, R., Leroy, B., Loget, P., Bonnière, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, P., Dallapiccola, B., Gleeson, J. G., Attie-Bitach, T., Valente, E. M., Ali Pacha, L., Tazir, M., Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Loncarevic, D., Mejaski-Bosnjak, V., Petkovic, D., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Lemke, J., Dacou-Voutetakis, C., Kitsiou Tzeli, S., Pons, R., Sztriha, L., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S. R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Di Giacomo, M., Gentile, M., Guanti, G., D'Addato, O., Papadia, F., Spano, M., Bernardi, F., Seri, M., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Izzi, C., Pinelli, L., Boccone, L., Guanciali, P., Romoli, R.

مصطلحات موضوعية: COACH syndrome, Congenital hepatic fibrosis, Joubert syndrome, Meckel syndrome, MKS3, TMEM67

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/20232449; info:eu-repo/semantics/altIdentifier/wos/WOS:000279982000001; volume:31; issue:5; firstpage:E1319; lastpage:E1331; numberofpages:12; journal:HUMAN MUTATION; http://hdl.handle.net/11365/37808; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478

الاتاحة: http://hdl.handle.net/11365/37808
https://doi.org/10.1002/humu.21239

المؤلفون: Lopez-Velazquez, D., Hernandez-Sosa, A. R., Bernes, S., Perez, E., Fernandez-Blazquez, J. P.

المصدر: Molecular crystals and liquid crystals 489, 222-236 (2008). doi:10.1080/15421400802219296

مصطلحات موضوعية: info:eu-repo/classification/ddc/540

جغرافية الموضوع: DE

Relation: info:eu-repo/semantics/altIdentifier/issn/0026-8941; info:eu-repo/semantics/altIdentifier/issn/1563-5287; info:eu-repo/semantics/altIdentifier/issn/1058-725X; info:eu-repo/semantics/altIdentifier/wos/WOS:000259224400019; info:eu-repo/semantics/altIdentifier/issn/1542-1406; info:eu-repo/semantics/altIdentifier/issn/0369-1152; info:eu-repo/semantics/altIdentifier/issn/1543-5318; https://bib-pubdb1.desy.de/record/86610; https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-9109%22

الاتاحة: https://bib-pubdb1.desy.de/record/86610
https://bib-pubdb1.desy.de/search?p=id:%22PHPPUBDB-9109%22

المؤلفون: Arauzo, Ana B., Gasque, L., Fuertes, Sara, Tenorio, C., Bernès, S., Bartolomé, Elena

المساهمون: Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), Gobierno de Aragón, European Commission, Diputación General de Aragón, Consejo Nacional de Ciencia y Tecnología (México)

Relation: #PLACEHOLDER_PARENT_METADATA_VALUE#; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/MAT2017-83468-R; MAT2017-83468-R/AEI/10.13039/501100011033; info:eu-repo/grantAgreement/AEI/Plan Estatal de Investigación Científica y Técnica y de Innovación 2017-2020/PGC2018-094749-B-I00; PGC2018-094749-B-I00/AEI/10.13039/501100011033; https://doi.org/10.1039/D0DT02614J; Sí; Dalton Transactions 49(39): 13671-13684 (2020); http://hdl.handle.net/10261/232903; http://dx.doi.org/10.13039/501100010067; http://dx.doi.org/10.13039/501100000780; http://dx.doi.org/10.13039/501100003141; http://dx.doi.org/10.13039/501100011033

الاتاحة: http://hdl.handle.net/10261/232903
https://doi.org/10.1039/D0DT02614J
https://doi.org/10.13039/501100010067
https://doi.org/10.13039/501100000780
https://doi.org/10.13039/501100003141
https://doi.org/10.13039/501100011033

المؤلفون: Vázquez-Bravo, J., Aguilar-Marcelino, L., Castañeda-Ramírez, G.S., De los Santos-Pérez, I., Arroyo-Carmona, R.E., Bernès, S., Hernández-Pareja, U., Gómez-Rodríguez, O., Rosas-Saito, G.H.

المصدر: Journal of Helminthology ; volume 94 ; ISSN 0022-149X 1475-2697

الاتاحة: http://dx.doi.org/10.1017/s0022149x2000070x
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0022149X2000070X

المؤلفون: Addala, A., Poupon, M., Bernès, S., Kürkçüoglu, G.S., Liu, X., Lehchili, F., Kuceráková, M., Dusek, M., Setifi, F., Setifi, Z., Reedijk, J.

المصدر: Polyhedron

وصف الملف: application/pdf

Relation: lucris-id: 340232420; https://hdl.handle.net/1887/138405

الاتاحة: https://hdl.handle.net/1887/138405
https://doi.org/10.1016/j.poly.2019.05.028

المؤلفون: Setifi, Z., Bernès, S., Perez, O., Setifi, F., Rouag, D.-A.

المساهمون: Université Ferhat-Abbas Sétif 1 Sétif (UFAS1), Université de Constantine, Benemérita Universidad Autónoma de Puebla (BUAP), Laboratoire de cristallographie et sciences des matériaux (CRISMAT), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-École Nationale Supérieure d'Ingénieurs de Caen (ENSICAEN), Normandie Université (NU)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche sur les Matériaux Avancés (IRMA), Normandie Université (NU)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Institut national des sciences appliquées Rouen Normandie (INSA Rouen Normandie), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université de Rouen Normandie (UNIROUEN), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Centre National de la Recherche Scientifique (CNRS)

المصدر: ISSN: 2056-9890.

مصطلحات موضوعية: Silver, Crystal structure, Mixed valency, Quinoline, [CHIM]Chemical Sciences, [CHIM.CRIS]Chemical Sciences/Cristallography, [CHIM.MATE]Chemical Sciences/Material chemistry, [CHIM.THEO]Chemical Sciences/Theoretical and/or physical chemistry

Relation: hal-02184179; https://normandie-univ.hal.science/hal-02184179; PUBMEDCENTRAL: PMC4459308

الاتاحة: https://normandie-univ.hal.science/hal-02184179
https://doi.org/10.1107/S2056989015009664

المؤلفون: Travaglini L, Brancati F, Attie Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel Salam GM, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D., CIRILLO, Margherita

المساهمون: Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM, International JSRD Study Group, Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Parisi P, Pollazzon M, Silengo M, De Vescovi R, Greco D, Romano C, Cazzagon M, Simonati A, Al-Tawari AA, Bastaki L, Mégarbané A, Sabolic Avramovska V, de Jong MM, Stromme P, Koul R, Rajab A, Azam M, Barbot C, Martorell Sampol L, Rodriguez B, Pascual-Castroviejo I, Teber S, Anlar B, Comu S, Karaca E, Kayserili H, Yüksel A, Akcakus M, Al Gazali L, Sztriha L, Nicholl D, Woods CG, Bennett C, Hurst J, Sheridan E, Barnicoat A, Hennekam R, Lees M, Blair E, Bernes S, Sanchez H, Clark AE, DeMarco E, Donahue C, Sherr E, Hahn J, Sanger TD, Gallager TE, Dobyns WB, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, McKanna T, Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Goldstein A, Caldwell J, Finsecke E, Maria BL, Holden K, Cruse RP, Swoboda KJ, Viskochil D.

مصطلحات موضوعية: Joubert syndrome and related disorder, Meckel syndrome, CEP290, genomic rearrangement

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/19764032; info:eu-repo/semantics/altIdentifier/wos/WOS:000270745000018; volume:149A; issue:10; firstpage:2173; lastpage:2180; numberofpages:8; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/2318/80595; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-70349501422

الاتاحة: http://hdl.handle.net/2318/80595
https://doi.org/10.1002/ajmg.a.33025

المؤلفون: BALABAN N., GOV Y, GIACOMETTI, Andrea, CIRIONI, OSCAR, GHISELLI, ROBERTO, MOCCHEGIANI, FEDERICO, ORLANDO F., DAMATO G., SABA, Vittorio, SCALISE, Giorgio, BERNES S., MOR A.

المساهمون: Balaban, N., Gov, Y, Giacometti, Andrea, Cirioni, Oscar, Ghiselli, Roberto, Mocchegiani, Federico, Orlando, F., Damato, G., Saba, Vittorio, Scalise, Giorgio, Bernes, S., Mor, A.

مصطلحات موضوعية: chimeric peptide, RIP, graft infection, resistant staphylococcu, MRSA

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/15215107; info:eu-repo/semantics/altIdentifier/wos/WOS:000222427200029; volume:48; issue:7; firstpage:2544; lastpage:2550; numberofpages:7; journal:ANTIMICROBIAL AGENTS AND CHEMOTHERAPY; http://hdl.handle.net/11566/51139; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-3042533905

الاتاحة: http://hdl.handle.net/11566/51139
https://doi.org/10.1128/AAC.48.7.2544-2550.2004

المؤلفون: Travaglini, Lorena, Brancati, Francesco., Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria, Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G.M.H., Abdel-Aleem, A., Zaki, M.S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S.R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M.A., Caridi, G., Divizia, M.T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C.D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A.M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M.R., Di Sabato, M.L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A.A., Bastaki, L., Megabane, A., Sabolic Avramovska, V., De Jong, M.M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I, Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yuksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C.G., Bennett, Craig, Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A.E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T.D., Gallager, T.E., Dobyns, W.B., Daugherty, C., Krishnamoorthy, K.S., Sarco, D., Walsh, C.A., McKanna, T., Milisa, J., Chung, W.K., De Vivo, D.C., Raynes, H., Schubert, R., Seward, A., Brooks, D.G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B.L., Holden, K., Cruse, R.P., Swoboda, K.J., Viskochil, D.

وصف الملف: application/pdf

Relation: http://dx.doi.org/10.1002/ajmg.a.33025; https://researchonline.jcu.edu.au/35700/; https://researchonline.jcu.edu.au/35700/1/35700_Travaglini_etal_2009.pdf; Travaglini, Lorena, Brancati, Francesco., Attie-Bitach, Tania, Audollent, Sophie, Bertini, Enrico, Kaplan, Josseline, Perrault, Isabelle, Iannicelli, Miriam, Mancuso, Brunella, Rigoli, Luciana, Rozet, Jean-Michel, Swistun, Dominika, Tolentino, Jerlyn, Dallapiccola, Bruno, Gleeson, Joseph G., Valente, Enza Maria, Zankl, A., Leventer, R., Grattan-Smith, P., Janecke, A., D'Hooghe, M., Sznajer, Y., Van Coster, R., Demerleir, L., Dias, K., Moco, C., Moreira, A., Ae Kim, C., Maegawa, G., Petkovic, D., Abdel-Salam, G.M.H., Abdel-Aleem, A., Zaki, M.S., Marti, I., Quijano-Roy, S., Sigaudy, S., De Lonlay, P., Romano, S., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Collignon, P., Wolf, N., Philippi, H., Kitsiou Tzeli, S., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Phadke, S.R., Udani, V., Stuart, B., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Benedicenti, F., Stanzial, F., Borgatti, R., Accorsi, P., Battaglia, S., Fazzi, E., Giordano, L., Pinelli, L., Boccone, L., Bigoni, S., Ferlini, A., Donati, M.A., Caridi, G., Divizia, M.T., Faravelli, F., Ghiggeri, G., Pessagno, A., Briguglio, M., Briuglia, S., Salpietro, C.D., Tortorella, G., Adami, A., Castorina, P., Lalatta, F., Marra, G., Riva, D., Scelsa, B., Spaccini, L., Uziel, G., Del Giudice, E., Laverda, A.M., Ludwig, K., Permunian, A., Suppiej, A., Signorini, S., Uggetti, C., Battini, R., Di Giacomo, M., Cilio, M.R., Di Sabato, M.L., Leuzzi, V., Parisi, P., Pollazzon, M., Silengo, M., De Vescovi, R., Greco, D., Romano, C., Cazzagon, M., Simonati, A., Al-Tawari, A.A., Bastaki, L., Megabane, A., Sabolic Avramovska, V., De Jong, M.M., Stromme, P., Koul, R., Rajab, A., Azam, M., Barbot, C., Martorell Sampol, L., Rodriguez, B., Pascual-Castroviejo, I, Teber, S., Anlar, B., Comu, S., Karaca, E., Kayserili, H., Yuksel, A., Akcakus, M., Al Gazali, L., Sztriha, L., Nicholl, D., Woods, C.G., Bennett, Craig, Hurst, J., Sheridan, E., Barnicoat, A., Hennekam, R., Lees, M., Blair, E., Bernes, S., Sanchez, H., Clark, A.E., DeMarco, E., Donahue, C., Sherr, E., Hahn, J., Sanger, T.D., Gallager, T.E., Dobyns, W.B., Daugherty, C., Krishnamoorthy, K.S., Sarco, D., Walsh, C.A., McKanna, T., Milisa, J., Chung, W.K., De Vivo, D.C., Raynes, H., Schubert, R., Seward, A., Brooks, D.G., Goldstein, A., Caldwell, J., Finsecke, E., Maria, B.L., Holden, K., Cruse, R.P., Swoboda, K.J., and Viskochil, D. (2009) Expanding CEP290 mutational spectrumin ciliopathies. American Journal of Medical Genetics: Part A, 149 (10). pp. 2173-2180.

الاتاحة: https://researchonline.jcu.edu.au/35700/1/35700_Travaglini_etal_2009.pdf

المؤلفون: Ben-Shachar, S, Lanpher, B, German, J R, Qasaymeh, M, Potocki, L, Nagamani, S C S., Franco, L M, Malphrus, A, Bottenfield, G W, Spence, J E, Amato, S, Rousseau, J A, Moghaddam, B, Skinner, C, Skinner, S A, Bernes, S, Armstrong, N, Shinawi, M, Stankiewicz, P, Patel, A, Cheung, S-W, Lupski, J R, Beaudet, A L, Sahoo, T

المصدر: Journal of Medical Genetics ; volume 46, issue 6, page 382-388 ; ISSN 0022-2593 1468-6244

الاتاحة: http://dx.doi.org/10.1136/jmg.2008.064378
https://syndication.highwire.org/content/doi/10.1136/jmg.2008.064378

المؤلفون: Cantagrel V, Silhavy JL, Bielas S, Swistun D, Marsh SE, Bertrand J, Audollent S, Attié Bitach T, Holden KR, Dobyns WB, Traver D, Al Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Grattan Smith P, Leventer J, Van Coster R, Dias K, Moco C, Moreira, Ae Kim C, AKiss A, Maegawa G, Abdel Salam GMH, Abdel Aleem A, Zaki MS, Marti I, Quijano Roy S, de Lonlay P, A. Verloes A, Touraine R, Koenig M, Lagier Tourenne C, Messer J, Philippi H, Tzeli SK, Halldorsson S, Johannsdottir J, Ludvigsson P, Magee A, Stuart B, Lev D, Michelson M, Ben Zeev B, Fischetto R, Gentile M, Battaglia, Giordano L, Boccone L, Ruggieri M, Bigoni S, Ferlini A, Donati MA, Procopio E, Lapi E, Genuardi M, Caridi G, Faravelli F, Ghiggeri G, D’Arrigo S, Pantaleoni C, Riva D, Uziel G, Laverda AM, Permunian A, Bova S, Fazz Ei, Sabrina S, Battini R, Bertini E, Dallapiccola B, Cilio MR, Di Sabato M, Emma F, Leuzzi V, Parisi P, Simonati A, Al Tawari AA, Bastaki L, Ahmad Aqueel A, Jong MM, Koul R, Rajab A, Sztriha L, Azam M, Barbot C, Rodriguez B, Pascual Castroviejo I, Eugen Boltshauser E, Hulya H, Comu S, Akcakus M, Sahin Y, Phadke SR, Melick N, Mikati M, Nicholl D, Hurst J, Hennekam RCM, Bernes S, Sanchez H, Clark AE, Wynshaw Boris A, Donahue C, Sherr EH, Barkovich AJ, Hahn D., Sanger TD, Gallager TE, Daugherty C, Krishnamoorthy KS, Sarco D, Walsh CA, Soul, JMcKanna T, Joanne Milisa J, Chung WK, De Vivo DC, Raynes H, Schubert R, Seward A, Brooks DG, Amy Goldstein A, Caldwell J, Finsecke E, Maria BL, Cruse RP, LotzeTE, Swoboda KJ, Viskochil DH, Valente EM, Woods CG, Gleeson JG, BRIUGLIA, Silvana, TORTORELLA, Gaetano, RIGOLI, Luciana Concetta, SALPIETRO DAMIANO, Carmelo

المساهمون: Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam, Gmh, Abdel Aleem, A, Zaki, M, Marti, I, Quijano Roy, S, de Lonlay, P, A., Verloes A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari, Aa, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I

مصطلحات موضوعية: ADP-Ribosylation Factor, Abnormalities, Multiple, Animal, Brain Disease, Chromosome Mapping, Cilia, Computational Biology, Conserved Sequence, Human, Molecular Sequence Data, Neuron, Syndrome, Zebrafish, Genetic Predisposition to Disease, Mutation, Genetics

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/18674751; info:eu-repo/semantics/altIdentifier/wos/WOS:000258418200002; volume:83; issue:2; firstpage:170; lastpage:179; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11570/3101035; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-48349109103

الاتاحة: http://hdl.handle.net/11570/3101035
https://doi.org/10.1016/j.ajhg.2008.06.023

المؤلفون: Brancati F., Barrano G., Silhavy J. L., Marsh S. E., Travaglini L., Bielas S. L., Amorini M., Zablocka D., Kayserili H., Al-Gazali L., Bertini E., Boltshauser E., D'Hooghe M., FAZZI, ELEONORA, Fenerci E. Y., Hennekam R. C. M., Kiss A., Lees M. M., Marco E., Phadke S. R., Rigoli L., Romano S., Salpietro C. D., Sherr E. H., Signorini S., Stromme P., Stuart B., Sztriha L., Viskochil D. H., Yuksel A., Dallapiccola B., Valente E. M., Gleeson J. G., Grattan-Smith P., Leventer R., Janecke A., Van Coster R., Dias K., Moco C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong A. K., Maegawa G., Abdel-Salam G. M. H., Abdel-Aleem A., Zaki M. S., Marti I., Quijano-Roy S., De Lonlay P., Verloes A., Touraine R., Koenig M., Lagier-Tourenne C., Messer J., Philippi H., Tzeli S. K., Halldorsson S., Johannsdottir J., Ludvigsson P., Magee A., Lev D., Michelson M., Ben-Zeev B., Fischetto R., Gentile M., Battaglia S., Giordano L., Boccone L., Ruggieri M., Bigoni S., Ferlini A., Donati M. A., Procopio E., Caridi G., Faravelli F., Ghiggeri G., Briuglia S., Tortorella G., D'Arrigo S., Pantaleoni C., Riva D., Uziel G., Lavercla A. M., Permunian A., Bova S., BATTINI, ROBERTA, Cilio M. R., DI SABATO, MANUELA, Emma F., Leuzzi V., Parisi P., Simonati A., Al-Tawari A. A., Bastaki L., Aqeel A., De Jong M. M., Koul R., Rajab A., Azam M., Barbot C., Rodriguez B., Pascual-Castroviejo I., Comu S., Akcakus M., Nicholl D., Woods C. G., Bennett C., Hurst J., Walsh C. A., Bernes S., Sanchez H., Clark A. E., Donahue C., Hahn J., Sanger T. D., Gallager T. E., Dobyns W. B., Daugherty C., Krishnamoorthy K. S., Sarco D., McKanna T., Milisa J., Chung W. K., De Vivo D. C., Raynes H., Schubert R., Seward A., Brooks D. G., Goldstein A., Caldwell J., Finsecke E., Maria B. L., Holden K., Cruse R. P., Swoboda K. J.

المساهمون: Brancati, F., Barrano, G., Silhavy, J. L., Marsh, S. E., Travaglini, L., Bielas, S. L., Amorini, M., Zablocka, D., Kayserili, H., Al-Gazali, L., Bertini, E., Boltshauser, E., D'Hooghe, M., Fazzi, Eleonora, Fenerci, E. Y., Hennekam, R. C. M., Kiss, A., Lees, M. M., Marco, E., Phadke, S. R., Rigoli, L., Romano, S., Salpietro, C. D., Sherr, E. H., Signorini, S., Stromme, P., Stuart, B., Sztriha, L., Viskochil, D. H., Yuksel, A., Dallapiccola, B., Valente, E. M., Gleeson, J. G., Grattan-Smith, P., Leventer, R., Janecke, A., Van Coster, R., Dias, K., Moco, C., MOREIRA DA SILVA, CLAUDIA ALEXANDRA, Chong, A. K., Maegawa, G., Abdel-Salam, G. M. H., Abdel-Aleem, A., Zaki, M. S., Marti, I., Quijano-Roy, S., De Lonlay, P., Verloes, A., Touraine, R., Koenig, M., Lagier-Tourenne, C., Messer, J., Philippi, H., Tzeli, S. K., Halldorsson, S., Johannsdottir, J., Ludvigsson, P., Magee, A., Lev, D., Michelson, M., Ben-Zeev, B., Fischetto, R., Gentile, M., Battaglia, S., Giordano, L., Boccone, L., Ruggieri, M., Bigoni, S., Ferlini, A., Donati, M. A., Procopio, E., Caridi, G., Faravelli, F., Ghiggeri, G., Briuglia, S., Tortorella, G., D'Arrigo, S., Pantaleoni, C., Riva, D., Uziel, G., Lavercla, A. M., Permunian, A., Bova, S., Battini, Roberta, Cilio, M. R., DI SABATO, Manuela, Emma, F., Leuzzi, V., Parisi, P., Simonati, A., Al-Tawari, A. A., Bastaki, L., Aqeel, A., De Jong, M. M., Koul, R., Rajab, A., Azam, M., Barbot, C., Rodriguez, B.

مصطلحات موضوعية: Abnormalities, Multiple, Adolescent, Adult, Antigens, Neoplasm, Brain, Child, Preschool, Cohort Studie, DNA Mutational Analysi, Female, Human, Kidney Disease, Magnetic Resonance Imaging, Male, Molar, Mutation, Neoplasm Protein, Ocular Motility Disorder, Phenotype, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/17564967; info:eu-repo/semantics/altIdentifier/wos/WOS:000247039700009; volume:81; issue:1; firstpage:104; lastpage:113; numberofpages:10; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/11573/1324198; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-34347225615

الاتاحة: http://hdl.handle.net/11573/1324198
https://doi.org/10.1086/519026