المؤلفون: Chaize, N, Baudry, X, Jouneau, P-H, Gautier, E, Rouvière, J-L, Deblock, Y, Xu, J, Berthe, M, Barbot, C, Grandidier, B, Desplanque, L, Sellier, H, Ballet, P

المساهمون: Commissariat à l'énergie atomique et aux énergies alternatives - Laboratoire d'Electronique et de Technologie de l'Information (CEA-LETI), Direction de Recherche Technologique (CEA) (DRT (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratoire d'Etude des Matériaux par Microscopie Avancée (LEMMA), Modélisation et Exploration des Matériaux (MEM), Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA)-Institut de Recherche Interdisciplinaire de Grenoble (IRIG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Grenoble Alpes (UGA), Institut d’Électronique, de Microélectronique et de Nanotechnologie - UMR 8520 (IEMN), Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Université Polytechnique Hauts-de-France (UPHF)-JUNIA (JUNIA), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Centrale de Micro Nano Fabrication - IEMN (CMNF - IEMN), Université catholique de Lille (UCL)-Université catholique de Lille (UCL)-Centrale Lille-Université de Lille-Centre National de la Recherche Scientifique (CNRS)-Université Polytechnique Hauts-de-France (UPHF)-JUNIA (JUNIA), Brown University, Plateforme de Caractérisation Multi-Physiques - IEMN (PCMP - IEMN), Physique - IEMN (PHYSIQUE - IEMN), EPItaxie et PHYsique des hétérostructures - IEMN (EPIPHY - IEMN), Nano-Electronique Quantique et Spectroscopie (NEEL - QuNES), Institut Néel (NEEL), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP), Université Grenoble Alpes (UGA), CMNF, PCMP PCP, Renatech Network, ANR-21-CE09-0026,Inspiring,Nanofils coeur-coquille planaires à fort couplage spin-orbite pour composants mesoscopiques intégrés(2021), ANR-22-PEEL-0014,PFNC,PFNC equipements(2022)

المصدر: ISSN: 0957-4484.

مصطلحات موضوعية: [PHYS]Physics [physics], [SPI]Engineering Sciences [physics]

Relation: info:eu-repo/semantics/altIdentifier/arxiv/2407.08402; ARXIV: 2407.08402

الاتاحة: https://hal.science/hal-04746498
https://hal.science/hal-04746498v1/document
https://hal.science/hal-04746498v1/file/2407.08402v1.pdf
https://doi.org/10.1088/1361-6528/ad7ff4

المؤلفون: Habra, W., Tounsi, P., Madrid, F., Dupuy, P., Barbot, C., Dorkel, J. -M.

المصدر: Dans 13th International Worshop on THERMal INvestigations of ICs and Systems - THERMINIC 2007, Budapest : Hongrie (2007)

مصطلحات موضوعية: Physics - General Physics

URL الوصول: http://arxiv.org/abs/0801.1044

المؤلفون: Barbot, C., Drees, M., Halzen, F., Hooper, D.

المصدر: Phys.Lett. B563 (2003) 132-139

مصطلحات موضوعية: High Energy Physics - Phenomenology

URL الوصول: http://arxiv.org/abs/hep-ph/0207133

المؤلفون: Barbot, C., Drees, M., Halzen, F., Hooper, D.

المصدر: Phys.Lett.B555:22-32,2003

مصطلحات موضوعية: High Energy Physics - Phenomenology, Astrophysics

URL الوصول: http://arxiv.org/abs/hep-ph/0205230

المؤلفون: Valente, E M, Marsh, S E, Castori, M, Dixon-Salazar, T, Bertini, E, Al-Gazali, L, Messer, J, Barbot, C, Woods, C G, Boltshauser, E, Al-Tawari, A A, Salpietro, C D, Kayserili, H, Sztriha, L, Gribaa, M, Koenig, M, Dallapiccola, B, Gleeson, J G

المصدر: Annals of Neurology. 57(4)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8mg3966w

المؤلفون: Santos, M, Damásio, J, Kun-Rodrigues, C, Barbot, C, Sequeiros, J, Brás, J, Alonso, I, Guerreiro, R

المساهمون: Instituto de Investigação e Inovação em Saúde

مصطلحات موضوعية: Cerebellar ataxia, Exome sequencing, Myelin-associated glycoprotein

وصف الملف: application/pdf

Relation: info:eu-repo/grantAgreement/FCT/6817 - DCRRNI ID/UIDB%2F04293%2F2020/PT; info:eu-repo/grantAgreement/FCT/3599-PPCDT/FCT-ANR%2FBEX-GMG%2F0008%2F2013/PT; info:eu-repo/grantAgreement/FCT/FARH/SFRH%2FBPD%2F116046%2F2016/PT; Journal of Clinical Medicine, vol.9(4):1212; https://www.mdpi.com/2077-0383/9/4/1212; https://hdl.handle.net/10216/145276

الاتاحة: https://hdl.handle.net/10216/145276
https://doi.org/10.3390/jcm9041212

المؤلفون: Barbot, C.. Auteur du texte

المصدر: Bibliothèque nationale de France, département Littérature et art, YE-37920

الاتاحة: http://data.europeana.eu/aggregation/europeana/794/ark__12148_bpt6k5726469g

المؤلفون: Boisson, F., Goudard, F., Durand, J. P., Barbot, C., Pieri, J., Amiard, J. C., Fowler, S. W.

المصدر: Marine Ecology Progress Series, 2003 Jun 01. 254, 177-186.

URL الوصول: https://www.jstor.org/stable/24866930

المؤلفون: BARBOT, C.

المصدر: International Journal of Transport Economics / Rivista internazionale di economia dei trasporti, 2003 Jun 01. 30(2), 251-262.

URL الوصول: https://www.jstor.org/stable/42747660

المؤلفون: Durand, J. P., Goudard, F., Barbot, C., Pieri, J., Fowler, S. W., Cotret, O.

المصدر: Marine Ecology Progress Series, 2002 May . 233, 199-205.

URL الوصول: https://www.jstor.org/stable/24865188

المؤلفون: Bras, J, Darwent, L, Orme, T, Hardy, J, Guerreiro, R, Alonso, I, Barbot, C, Sequeiros, J, Coutinho, P, Costa, MM

المصدر: American Journal of Human Genetics , 96 (3) 474 - 479. (2015)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/1464874/1/1-s2.0-S0002929715000130-main.pdf; https://discovery.ucl.ac.uk/id/eprint/1464874/2/mmc1.pdf; https://discovery.ucl.ac.uk/id/eprint/1464874/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1464874/1/1-s2.0-S0002929715000130-main.pdf
https://discovery.ucl.ac.uk/id/eprint/1464874/2/mmc1.pdf
https://discovery.ucl.ac.uk/id/eprint/1464874/

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: Barbot, C., den Auwer, Christophe, Ouvrard, Guy, G., Llorens, Isabelle, Moisy, Philippe, Vidaud, Claude, Goudard, Françoise, L. Solari, P-, Briois, Valérie, Funke, H.

المساهمون: Laboratoire GERMETRAD (GERMETRAD), Université de Nantes (UN), Institut des Matériaux Jean Rouxel (IMN), Université de Nantes - UFR des Sciences et des Techniques (UN UFR ST), Université de Nantes (UN)-Université de Nantes (UN)-Ecole Polytechnique de l'Université de Nantes (EPUN), Université de Nantes (UN)-Université de Nantes (UN)-Institut de Chimie - CNRS Chimie (INC-CNRS)-Centre National de la Recherche Scientifique (CNRS)

المصدر: AECCPCM ; https://hal.science/hal-02535591 ; AECCPCM, Apr 2008, Marseille, France

مصطلحات موضوعية: [CHIM]Chemical Sciences, [CHIM.CRIS]Chemical Sciences/Cristallography

جغرافية الموضوع: Marseille, France

Relation: hal-02535591; https://hal.science/hal-02535591; https://hal.science/hal-02535591/document; https://hal.science/hal-02535591/file/Poster%20AECCPCM%20A4%202008.pdf

الاتاحة: https://hal.science/hal-02535591
https://hal.science/hal-02535591/document
https://hal.science/hal-02535591/file/Poster%20AECCPCM%20A4%202008.pdf

المؤلفون: R. Mota, Céu, Martins, E., Fortuna, A., Carvalho, C., Proneça, E., Matos, A., Pinho, O., Barbot, C., Lima, M. R.

المصدر: Portuguese Journal of Pediatrics; Vol. 30 No. 6 (1999); Pag. 509-513 ; Portuguese Journal of Pediatrics; Vol. 30 N.º 6 (1999); Pag. 509-513 ; 2184-4453 ; 2184-3333

مصطلحات موضوعية: Síndroma Smith-Lemli-Opitz, metabolismo do colesterol, diagnóstico pré-natal

وصف الملف: application/pdf

Relation: https://ojs.pjp.spp.pt/article/view/5531/4296; https://ojs.pjp.spp.pt/article/view/5531

الاتاحة: https://ojs.pjp.spp.pt/article/view/5531

المؤلفون: Silva, E.S., Cardoso, M.L., Vilarinho, L., Medina, M., Barbot, C., Martins, E.

مصطلحات موضوعية: Doenças Genéticas, Erros Hereditários do Metabolismo, Argininemia

Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755545/; JIMD Rep. 2013;11:25-30. doi:10.1007/8904_2013_218. Epub 2013 Apr 5; http://hdl.handle.net/10400.18/2188

الاتاحة: http://hdl.handle.net/10400.18/2188
https://doi.org/10.1007/8904_2013_218

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: Santos-Silva, E., Cardoso, M., Vilarinho, L., Medina, M., Barbot, C., Martins, E.

Relation: http://link.springer.com/content/pdf/10.1007%2F8904_2013_218.pdf; JIMD Rep. 2013 Apr 5. [Epub ahead of print]; http://hdl.handle.net/10400.16/1450

الاتاحة: http://hdl.handle.net/10400.16/1450

المؤلفون: Temudo, T, Santos, M, Ramos, E, Dias, K, Vieira, JP, Moreira, A, Calado, E, Carrilho, I, Oliveira, G, Levy, A, Barbot, C, Fonseca, M, Cabral, A, Cabral, P, Monteiro, J, Borges, L, Gomes, R, Mira, G, Pereira, SA, Fernandes, A, Epplen, JT, Sequeiros, J, Maciel, P

مصطلحات موضوعية: Mutation, Phenotype, Methyl-CpG-Binding Protein 2/*genetics, Rett Syndrome/genetics, Rett Syndrome/diagnosis, Rett Syndrome/physiopathology, Humans, Child, Preschool, Adolescent, HDE NEU PED

Relation: Brain Develop. 2011 Jan; 33 (1): 69-76; http://hdl.handle.net/10400.17/2335

الاتاحة: http://hdl.handle.net/10400.17/2335

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: Barbot, C, Castro, L, Oliveira, C, Carpenter, S

مصطلحات موضوعية: Short reports

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/81/1/112; http://dx.doi.org/10.1136/jnnp.2009.164293

الاتاحة: http://jnnp.bmj.com/cgi/content/short/81/1/112
https://doi.org/10.1136/jnnp.2009.164293