المؤلفون: Philippi, H.¹ (AUTHOR), Sommerfeld, V.¹ (AUTHOR), Monteiro, A.² (AUTHOR), Rodehutscord, M.¹ (AUTHOR), Olukosi, O. A.³ (AUTHOR) oaolukosi@uga.edu

المصدر: British Poultry Science. Jun2024, Vol. 65 Issue 3, p331-341. 11p.

مصطلحات موضوعية: *PHYTASES, *PHYTIC acid, *PECTORALIS muscle, *BROILER chickens, *GENE expression, *BONE ash, *ZINC, *DIET

المؤلفون: Pelletier F., Perrier S., Cayami F. K., Mirchi A., Saikali S., Tran L. T., Ulrick N., Guerrero K., Rampakakis E., van Spaendonk R. M. L., Naidu S., Pohl D., Gibson W. T., Demos M., Goizet C., Tejera-Martin I., Potic A., Fogel B. L., Brais B., Sylvain M., Sebire G., Lourenco C. M., Bonkowsky J. L., Catsman-Berrevoets C., Pinto P. S., Tirupathi S., Stromme P., de Grauw T., Gieruszczak-Bialek D., Krageloh-Mann I., Mierzewska H., Philippi H., Rankin J., Atik T., Banwell B., Benko W. S., Blaschek A., Bley A., Boltshauser E., Bratkovic D., Brozova K., Cimas I., Clough C., Corenblum B., Dinopoulos A., Dolan G., Faletra F., Fernandez R., Fletcher J., Garcia Garcia M. E., Gasparini P., Gburek-Augustat J., Gonzalez Moron D., Hamati A., Harting I., Hertzberg C., Hill A., Hobson G. M., Innes A. M., Kauffman M., Kirwin S. M., Kluger G., Kolditz P., Kotzaeridou U., La Piana R., Liston E., McClintock W., McEntagart M., McKenzie F., Melancon S., Misbahuddin A., Suri M., Monton F. I., Moutton S., Murphy R. P. J., Nickel M., Onay H., Orcesi S., Ozkinay F., Patzer S., Pedro H., Pekic S., Pineda Marfa M., Pizzino A., Plecko B., Poll-The B. T., Popovic V., Rating D., Rioux M. -F., Rodriguez Espinosa N., Ronan A., Ostergaard J. R., Rossignol E., Sanchez-Carpintero R., Schossig A., Senbil N., Sonderberg Roos L. K., Stevens C. A., Synofzik M., Sztriha L., Tibussek D., Timmann D., Tonduti D., van de Warrenburg B. P., Vazquez-Lopez M., Venkateswaran S., Wasling P., Wassmer E., Webster R. I., Wiegand G., Yoon G., Rotteveel J., Schiffmann R., van der Knaap M. S., Vanderver A., Martos-Moreno G. A., Polychronakos C., Wolf N. I., Bernard G.

المساهمون: Pelletier, F., Perrier, S., Cayami, F. K., Mirchi, A., Saikali, S., Tran, L. T., Ulrick, N., Guerrero, K., Rampakakis, E., van Spaendonk, R. M. L., Naidu, S., Pohl, D., Gibson, W. T., Demos, M., Goizet, C., Tejera-Martin, I., Potic, A., Fogel, B. L., Brais, B., Sylvain, M., Sebire, G., Lourenco, C. M., Bonkowsky, J. L., Catsman-Berrevoets, C., Pinto, P. S., Tirupathi, S., Stromme, P., de Grauw, T., Gieruszczak-Bialek, D., Krageloh-Mann, I., Mierzewska, H., Philippi, H., Rankin, J., Atik, T., Banwell, B., Benko, W. S., Blaschek, A., Bley, A., Boltshauser, E., Bratkovic, D., Brozova, K., Cimas, I., Clough, C., Corenblum, B., Dinopoulos, A., Dolan, G., Faletra, F., Fernandez, R., Fletcher, J., Garcia Garcia, M. E., Gasparini, P., Gburek-Augustat, J., Gonzalez Moron, D., Hamati, A., Harting, I., Hertzberg, C., Hill, A., Hobson, G. M., Innes, A. M., Kauffman, M., Kirwin, S. M., Kluger, G., Kolditz, P., Kotzaeridou, U., La Piana, R., Liston, E., Mcclintock, W., Mcentagart, M., Mckenzie, F., Melancon, S., Misbahuddin, A., Suri, M., Monton, F. I., Moutton, S., Murphy, R. P. J., Nickel, M., Onay, H., Orcesi, S., Ozkinay, F., Patzer, S., Pedro, H., Pekic, S., Pineda Marfa, M., Pizzino, A., Plecko, B., Poll-The, B. T., Popovic, V., Rating, D., Rioux, M. -F., Rodriguez Espinosa, N., Ronan, A., Ostergaard, J. R., Rossignol, E., Sanchez-Carpintero, R., Schossig, A., Senbil, N., Sonderberg Roos, L. K., Stevens, C. A., Synofzik, M., Sztriha, L.

مصطلحات موضوعية: 4H leukodystrophy, hypogonadotropic hypogonadism, hypomyelination, POLR3-related leukodystrophy

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33005949; volume:106; issue:2; firstpage:e660; lastpage:e674; numberofpages:15; journal:THE JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM; http://hdl.handle.net/11368/2980250Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097520880; https://academic.oup.com/jcem/article/106/2/e660/5917135Test

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
http://hdl.handle.net/11368/2980250Test
https://academic.oup.com/jcem/article/106/2/e660/5917135Test

المؤلفون: Pelletier, F, Perrier, S, Cayami, FK, Mirchi, A, Saikali, S, Tran, LT, Ulrick, N, Guerrero, K, Rampakakis, E, van Spaendonk, RML, Naidu, S, Pohl, D, Gibson, WT, Demos, M, Goizet, C, Tejera-Martin, I, Potic, A, Fogel, BL, Brais, B, Sylvain, M, Sébire, G, Lourenço, CM, Bonkowsky, JL, Catsman-Berrevoets, C, Pinto, PS, Tirupathi, S, Strømme, P, de Grauw, T, Gieruszczak-Bialek, D, Krägeloh-Mann, I, Mierzewska, H, Philippi, H, Rankin, J, Atik, T, Banwell, B, Benko, WS, Blaschek, A, Bley, A, Boltshauser, E, Bratkovic, D, Brozova, K, Cimas, I, Clough, C, Corenblum, B, Dinopoulos, A, Dolan, G, Faletra, F, Fernandez, R, Fletcher, J, Garcia Garcia, ME, Gasparini, P, Gburek-Augustat, J, Gonzalez Moron, D, Hamati, A, Harting, I, Hertzberg, C, Hill, A, Hobson, GM, Innes, AM, Kauffman, M, Kirwin, SM, Kluger, G, Kolditz, P, Kotzaeridou, U, La Piana, R, Liston, E, McClintock, W, McEntagart, M, McKenzie, F, Melançon, S, Misbahuddin, A, Suri, M, Monton, FI, Moutton, S, Murphy, RPJ, Nickel, M, Onay, H, Orcesi, S, Özkınay, F, Patzer, S, Pedro, H, Pekic, S, Pineda Marfa, M, Pizzino, A, Plecko, B, Poll-The, BT, Popovic, V, Rating, D, Rioux, M-F, Rodriguez Espinosa, N, Ronan, A, Ostergaard, JR, Rossignol, E, Sanchez-Carpintero, R, Schossig, A, Senbil, N, Sønderberg Roos, LK, Stevens, CA, Synofzik, M, Sztriha, L, Tibussek, D, Timmann, D, Tonduti, D, van de Warrenburg, BP, Vázquez-López, M, Venkateswaran, S, Wasling, P, Wassmer, E, Webster, RI, Wiegand, G, Yoon, G, Rotteveel, J, Schiffmann, R, van der Knaap, MS, Vanderver, A, Martos-Moreno, GÁ, Polychronakos, C, Wolf, NI, Bernard, G

وصف الملف: application/pdf

العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest; Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; et al. Pelletier, F; Perrier, S; Cayami, FK; Mirchi, A; Saikali, S; Tran, LT; Ulrick, N; Guerrero, K; Rampakakis, E; van Spaendonk, RML; Naidu, S; Pohl, D; Gibson, WT; Demos, M; Goizet, C; Tejera-Martin, I; Potic, A; Fogel, BL; Brais, B; Sylvain, M; Sébire, G; Lourenço, CM; Bonkowsky, JL; Catsman-Berrevoets, C; Pinto, PS; Tirupathi, S; Strømme, P; de Grauw, T; Gieruszczak-Bialek, D; Krägeloh-Mann, I; Mierzewska, H; Philippi, H; Rankin, J; Atik, T; Banwell, B; Benko, WS; Blaschek, A; Bley, A; Boltshauser, E; Bratkovic, D; Brozova, K; Cimas, I; Clough, C; Corenblum, B; Dinopoulos, A; Dolan, G; Faletra, F; Fernandez, R; Fletcher, J; Garcia Garcia, ME; Gasparini, P; Gburek-Augustat, J; Gonzalez Moron, D; Hamati, A; Harting, I; Hertzberg, C; Hill, A; Hobson, GM; Innes, AM; Kauffman, M; Kirwin, SM; Kluger, G; Kolditz, P; Kotzaeridou, U; La Piana, R; Liston, E; McClintock, W; McEntagart, M; McKenzie, F; Melançon, S; Misbahuddin, A; Suri, M; Monton, FI; Moutton, S; Murphy, RPJ; Nickel, M; Onay, H; Orcesi, S; Özkınay, F; Patzer, S; Pedro, H; Pekic, S; Pineda Marfa, M; Pizzino, A; Plecko, B; Poll-The, BT; Popovic, V; Rating, D; Rioux, M-F; Rodriguez Espinosa, N; Ronan, A; Ostergaard, JR; Rossignol, E; Sanchez-Carpintero, R; Schossig, A; Senbil, N; Sønderberg Roos, LK; Stevens, CA; Synofzik, M; Sztriha, L; Tibussek, D; Timmann, D; Tonduti, D; van de Warrenburg, BP; Vázquez-López, M; Venkateswaran, S; Wasling, P; Wassmer, E; Webster, RI; Wiegand, G; Yoon, G; Rotteveel, J; Schiffmann, R; van der Knaap, MS; Vanderver, A; Martos-Moreno, GÁ; Polychronakos, C; Wolf, NI; Bernard, G (2021) Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. J Clin Endocrinol Metab, 106 (2). e660-e674. ISSN 1945-7197 https://doi.org/10.1210/clinem/dgaa700Test SGUL Authors: McEntagart, Meriel

الإتاحة: https://doi.org/10.1210/clinem/dgaa700Test
https://openaccess.sgul.ac.uk/id/eprint/113253Test/
https://openaccess.sgul.ac.uk/id/eprint/113253/1/dgaa700.pdfTest

المؤلفون: Eichinger, M, Görig, T, Philippi, H, Hoffmann, D, König, J, Urschitz, MS, Bock, FD

المصدر: 17. Deutscher Kongress für Versorgungsforschung (DKVF); 20181010-20181012; Berlin; DOC18dkvf284 /20181012/

مصطلحات موضوعية: ddc: 610

العلاقة: http://dx.doi.org/10.3205/18dkvf284Test; http://nbn-resolving.de/urn:nbn:de:0183-18dkvf2849Test; http://www.egms.de/en/meetings/dkvf2018/18dkvf284.shtmlTest

الإتاحة: https://doi.org/10.3205/18dkvf284Test
http://nbn-resolving.de/urn:nbn:de:0183-18dkvf2849Test
http://www.egms.de/en/meetings/dkvf2018/18dkvf284.shtmlTest

المؤلفون: Eichinger, M, Goerig, T, Georg, S, Philippi, H, De Bock, F

المصدر: European Journal of Public Health ; volume 29, issue Supplement_4 ; ISSN 1101-1262 1464-360X

مصطلحات موضوعية: Public Health, Environmental and Occupational Health

الإتاحة: https://doi.org/10.1093/eurpub/ckz185.605Test
http://academic.oup.com/eurpub/article-pdf/29/Supplement_4/ckz185.605/32632040/ckz185.605.pdfTest

المؤلفون: Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 46, issue s1, page S34 ; ISSN 0317-1671 2057-0155

مصطلحات موضوعية: Neurology (clinical), Neurology, General Medicine

الإتاحة: https://doi.org/10.1017/cjn.2019.175Test
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167119001756Test

المؤلفون: Haberlandt, E., Ensslen, M., Gruber-Sedlmayr, U., Plecko, B., Brunner-Krainz, M., Schimmel, Mareike, Schubert-Bast, S., Neirich, U., Philippi, H., Kurleman, G., Tardieu, M., Wohlrab, G., Borggraefe, I., Rostásy, K.

مصطلحات موضوعية: ddc:610

وصف الملف: application/pdf

العلاقة: https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111693Test; urn:nbn:de:bvb:384-opus4-1116938; https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1116938Test; https://doi.org/10.1016/j.ejpn.2016.11.016Test; https://opus.bibliothek.uni-augsburg.de/opus4/files/111693/111693.pdfTest

الإتاحة: https://doi.org/10.1016/j.ejpn.2016.11.016Test
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/111693Test
https://nbn-resolving.org/urn:nbn:de:bvb:384-opus4-1116938Test
https://opus.bibliothek.uni-augsburg.de/opus4/files/111693/111693.pdfTest

المؤلفون: Mueller, A., Helbig, I., Jansen, C., Bast, T., Guerrini, R., Jaehn, J., Muhle, H., Auvin, S., Korenke, G. C., Philip, S., Keimer, R., Striano, P., Wolf, N. I., Puest, B., Thiels, Ch., Fogarasi, A., Waltz, S., Kurlemann, G., Kovacevic-Preradovic, T., Ceulemans, Berten, Schmitt, B., Philippi, H., Tarquinio, D., Buerki, S., von Stuelpnagel, C., Kluger, G.

المصدر: 1090-3798 ; European journal of paediatric neurology

مصطلحات موضوعية: Human medicine

وصف الملف: pdf

العلاقة: info:eu-repo/semantics/altIdentifier/isi/000368569100020

الإتاحة: https://doi.org/10.1016/J.EJPN.2015.09.001Test
https://hdl.handle.net/10067/1315500151162165141Test
https://repository.uantwerpen.be/docman/irua/be66b1/131550_2017_01_01.pdfTest

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

العلاقة: 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/11365/960289Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84884592278

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

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

العلاقة: 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/11365/37808Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478

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