المؤلفون: Gilbert Vezina, A. Rubenstein, Roger J. Packer, Bruce R. Korf, J. Small, D. Viskochil, David H. Gutmann, R. A. Zimmerman

المصدر: Neurology. 58:1461-1470

مصطلحات موضوعية: Neurofibroma, Plexiform, Clinical Trials as Topic, Pathology, medicine.medical_specialty, Neurofibromatosis 1, biology, business.industry, medicine.medical_treatment, medicine.disease, Bioinformatics, Neurofibromin 1, Alternative treatment, Biological Therapy, Cytokine, Plexiform neurofibroma, medicine, biology.protein, Humans, Neurofibroma, Tumor growth, Neurology (clinical), Neurofibromatosis, business, Objective response

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d23755b1c706d7244208f96f7af5b34
https://doi.org/10.1212/wnl.58.10.1461

المؤلفون: E. Panosyan, M. Gotesman, T. Kallay, S. Martinez, M. Bolaris, J. Lasky, F. Fouyssac, J.-C. Gentet, D. Frappaz, C. Piguet, S. Gorde-Grosjean, J. Grill, E. Schmitt, S. Pall-Kondolff, P. Chastagner, R. Dudley, M. Torok, D. Gallegos, A. Liu, M. Handler, T. Hankinson, K. Fukuoka, T. Yanagisawa, T. Suzuki, M. Shirahata, J.-i. Adachi, K. Mishima, T. Fujimaki, M. Matsutani, A. Sasaki, S. Wada, R. Nishikawa, M. Suzuki, A. Kondo, M. Miyajima, H. Arai, S. Morin, E. Uro-Coste, C. Munzer, M. Gambart, S. Puget, C. Miquel, C.-A. Maurage, C. Dufour, P. Leblond, N. Andre, J. Kanold, C. Icher, A.-a. I. Bertozzi, B. Diez, A. Muggeri, S. Cerrato, B. Calabrese, N. Arakaki, A. Marron, G. Sevlever, M. J. Fisher, B. C. Widemann, E. Dombi, P. Wolters, A. Cantor, A. Vinks, J. Parentesis, N. Ullrich, D. Gutmann, D. Viskochil, J. Tonsgard, B. Korf, R. Packer, B. Weiss, L. Marcus, A. Kim, A. Baldwin, P. Whitcomb, S. Martin, A. Gillespie, A. Doyle, C. Bulwer, H.-W. Gan, A. Ederies, M. Korbonits, M. Powell, O. Jeelani, T. Jacques, E. Stern, H. Spoudeas, M. Kimpo, J. Tang, C. L. Tan, T. T. Yeo, Q. T. Chong, V. Ruland, S. Hartung, U. Kordes, J. E. Wolff, W. Paulus, M. Hasselblatt, S. Patil, W. Zaky, S. Khatua, Y. Lassen-Ramshad, L. Christensen, N. Clausen, A. Bendel, W. Dobyns, J. Bennett, M. Reyes-Mugica, J. Petronio, M. Nikiforova, H. Mueller, E. Kirches, A. Korshunov, S. Pfister, C. Mawrin, M. Hemenway, N. Foreman, A. Kumar, S. Kalra, R. Acharya, N. Radhakrishnan, A. Sachdeva, B. Nimmervoll, D. Hadjadj, Y. Tong, A. A. Shelat, J. Low, G. Miller, C. F. Stewart, R. K. Guy, R. J. Gilbertson, T. Miwa, Y. Nonaka, S. Oi, H. Sasaki, K. Yoshida, R. Northup, L. Klesse, R. McNall-Knapp, M. Blagia, F. Romeo, S. Toscano, A. D'Agostino, L. Lafay-Cousin, G. Lindzon, E. Bouffet, M. Taylor, W. Hader, R. Nordal, C. Hawkins, N. Laperriere, S. Laughlin, H. Shash, P. McDonald, J. Wrogemann, A. Ahsanuddin, K. Matsuda, R. Soni, M. I. Vanan, K. Cohen, I. Taylor, F. Rodriguez, P. Burger, J. Yeh, S. Rao, B. Iskandar, B. A.- Kienitz, R. Bruce, L. Keller, S. Salamat, D. Puccetti, N. Patel, A. Hana, V. R. N. Gunness, C. Berthold, L. Bofferding, C. Neuhaeuser, E. Scalais, I. Kieffer, W. Feiden, N. Graf, H. Boecher-Schwarz, F. Hertel, O. Cruz, A. Morales, C. de Torres, A. Vicente, M. A. Gonzalez, M. Sunol, J. Mora, G. Garcia, A. Guillen, J. Muchart, M. Yankelevich, S. Sood, J. Diver, S. Savasan, J. Poulik, K. Bhambhani, A. Hochart, V. Gaillard, N.-X. Bonne, M. Baroncini, J.-P. Vannier, F. Dubrulle, J.-P. Lejeune, C. Vincent, A. Japp, M. Gessi, A. z. Muehlen, L. Klein-Hitpass, T. Pietsch, M. Sharma, R. Yadav, P. B. Malgulwar, P. Pathak, E. Sigamani, V. Suri, C. Sarkar, A. Jagdevan, M. Singh, B. S. Sharma, A. Garg, S. Bakhshi, M. Faruq, D. Doromal, C. J. Villafuerte, E. Tezcanli, M. Yilmaz, M. Sengoz, S. Peker, G. Dhall, N. Robison, A. Margol, A. Evans, M. Krieger, J. Finlay, T. Rosser, Y. Khakoo, C. Pratilas, A. Marghoob, M. Berger, T. Hollmann, M. Rosenblum, M. Mrugala, P. Giglio, C. Keene, M. Ferreira, D. Garcia, A. Weil, Z. Khatib, A. Diaz, T. Niazi, S. Bhatia, J. Ragheb, K. Rangan, F. Gilles, C. Morris, Y. Chen, V. Shetty, S. Elbabaa, M. Guzman, M. S. Abdel-Baki, S. Waguespack, J. Jones, S. Stapleton, D. Baskin, null M, F. Okcu

مصطلحات موضوعية: Cancer Research, Abstracts, Oncology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0563d93a1fba58cd1ab40eaf7ee512
https://europepmc.org/articles/PMC4046297/

المؤلفون: Robert L. Spicer, Lynne M. Bird, Ronald V. Lacro, L. K. Jariwala, R. Zamora-Salinas, Glenn F. Billman, Marilyn C. Jones, C. Morris, H. E. Hoyme, D. Viskochil, M. J. Frikke

المصدر: The Journal of Pediatrics. 129:926-931

مصطلحات موضوعية: Male, Williams Syndrome, medicine.medical_specialty, Coronary Disease, Autopsy, Disease, Sudden death, Ventricular Outflow Obstruction, Death, Sudden, Fatal Outcome, Internal medicine, medicine, Humans, Risk factor, Child, business.industry, Infant, Newborn, Infant, medicine.disease, Surgery, Increased risk, El Niño, Aortic Valve, Child, Preschool, Pediatrics, Perinatology and Child Health, Cardiology, Female, Williams syndrome, business, Complication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c61b1218da875d808569a18667e91638
https://doi.org/10.1016/s0022-3476(96)70042-2

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

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., Bonniere, M., Starck, L., Tantau, J., Gentilin, B., Majore, S., Swistun, D., Flori, E., Lalatta, F., Pantaleoni, C., Penzien, J., Grammatico, Paola, 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., 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.

مصطلحات موضوعية: congenital hepatic fibrosi, coach syndrome, mks3, meckel syndrome, joubert syndrome, tmem67

وصف الملف: STAMPA

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:13; journal:HUMAN MUTATION; http://hdl.handle.net/11573/227776; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-77951821478; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9c

الاتاحة: http://hdl.handle.net/11573/227776
https://doi.org/10.1002/humu.21239
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000279982000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-77951821478&partnerID=65&md5=f5fcba4057c498376f525fc57a021f9c

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

المساهمون: L., Travaglini, Brancati, Francesco, T., Attie Bitach, S., Audollent, E., Bertini, J., Kaplan, I., Perrault, M., Iannicelli, B., Mancuso, L., Rigoli, J., Rozet, D., Swistun, J., Tolentino, B., Dallapiccola, J. G., Gleeson, E. M., Valente, I. J., Study, A., Zankl, R., Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, Y., Sznajer, R. V., Coster, L., Demerleir, K., Dia, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, D., Petkovic, G. M., H., A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, S., Sigaudy, P. d., Lonlay, S., Romano, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, P., Collignon, N., Wolf, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, V., Udani, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, F., Benedicenti, F., Stanzial, R., Borgatti, P., Accorsi, S., Battaglia, E., Fazzi, L., Giordano, L., Pinelli, L., Boccone, S., Bigoni, A., Ferlini, M. A., Donati, G., Caridi, M. T., Divizia, F., Faravelli, G., Ghiggeri, A., Pessagno, M., Briguglio, S., Briuglia, C. D., Salpietro, G., Tortorella, A., Adami, P., Castorina, F., Lalatta, G., Marra, D., Riva, B., Scelsa, L., Spaccini, G., Uziel, E. D., Giudice, A. M., Laverda, K., Ludwig, A., Permunian, A., Suppiej, S., Signorini, C., Uggetti, R., Battini, M. D., Giacomo, M. R., Cilio, M. L., Di, V., Leuzzi, P., Parisi

مصطلحات موضوعية: Abnormalitie, Multiple, genetics, Antigen, Neoplasm, genetics/metabolism, Base Sequence, Cilia, genetics/pathology, DNA Mutational Analysis, Female, Fetu, metabolism/pathology, Gene Deletion, Genetic Testing, Humans, Neoplasm Protein, RNA, Messenger, analysis, Syndrome

Relation: info:eu-repo/semantics/altIdentifier/pmid/19764032; volume:149A; firstpage:2173; lastpage:2180; numberofpages:7; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; http://hdl.handle.net/11564/270796; http://dx.doi.org/10.1002/ajmg.a.33025

الاتاحة: http://hdl.handle.net/11564/270796
https://doi.org/10.1002/ajmg.a.33025

المؤلفون: Francesco Brancati, L. Travaglini, D. Zablocka, E. Boltshauser, P. Accorsi, G. Montagna, J. L. Silhavy, G. Barrano, E. Bertini, F. Emma, L. Rigoli, International Jsrd Study Group, DALLA PICCOLA, Bruno, J. G. Gleeson, R. Valente Em Leventer, P. Grattan Smith, A. Janecke, M. D'Hooghe, R. Dias Van Coster, C. Moco, A. Moreira, C. A. Kim, G. Maegawa, G. M. H. Abdel Salam, A. Abdel Aleem, M. S. Zaki, I. Marti, S. Quijano Roy, P. De Lonlay, S. Romano, A. Verloes, R. Touraine, M. Koenig, C. Lagier Tourenne, J. Messer, H. Philippi, S. K. Tzeli, S. Halldorsson, J. Johannsdottir, P. Ludvigsson, S. R. Phadke, B. Stuart, A. Magee, D. Lev, M. Michelson, B. Ben Zeev, R. Fischetto, M. Gentile, S. Battaglia, L. Giordano, L. Pinelli, Boccone L. Ruggieri, S. Bigoni, A. Ferlini, M. A. Donati, E. Procopio, G. Caridi, F. Faravelli, G. Ghiggeri, S. Briuglia, C. D. Salpietro, G. Tortorella, S. D'Arrigo, C. Pantaleoni, D. Riva, G. Uziel, A. M. Laverda, A. Permunian, S. Bova, R. Battini, M. R. Cilio, M. Di Sabato, LEUZZI, Vincenzo, PARISI, Pasquale, A. Simonati, A. A. Al Tawari, L. Bastaki, Ahmad M. M. De Jong, R. Koul, A. Rajab, M. Azam, C. Barbot, B. Rodriguez, I. Pascual Castroviejo, H. Kayserili, S. Comu, M. Akcakus, L. Al Gazali, L. Sztriha, D. Nicholl, C. G. Woods, C. Bennett, J. Hurst, R. Hennekam, M. Lees, S. Bernes, H. Sanchez, A. E. Clark, E. Demarco, C. Donahue, E. Sherr, J. Hahn, T. D. Sanger, T. E. Gallager, W. B. Dobyns, C. Daugherty, K. S. Krishnamoorthy, D. Sarco, C. A. Walsh, T. Mckanna, J. Milisa, W. K. Chung, D. C. De Vivo, H. Raynes, R. Schubert, A. Seward, D. G. Brooks, A. Goldstein, J. Caldwell, E. Finsecke, Maria Bl, K. Holden, R. P. Cruse, K. G. Swoboda, D. Viskochil

المساهمون: Francesco, Brancati, L., Travaglini, D., Zablocka, E., Boltshauser, P., Accorsi, G., Montagna, J. L., Silhavy, G., Barrano, E., Bertini, F., Emma, L., Rigoli, International Jsrd Study, Group, DALLA PICCOLA, Bruno, J. G., Gleeson, R., Valente Em Leventer, P., Grattan Smith, A., Janecke, M., D'Hooghe, R., Dias Van Coster, C., Moco, A., Moreira, C. A., Kim, G., Maegawa, G. M. H., Abdel Salam, A., Abdel Aleem, M. S., Zaki, I., Marti, S., Quijano Roy, P., De Lonlay, S., Romano, A., Verloe, R., Touraine, M., Koenig, C., Lagier Tourenne, J., Messer, H., Philippi, S. K., Tzeli, S., Halldorsson, J., Johannsdottir, P., Ludvigsson, S. R., Phadke, B., Stuart, A., Magee, D., Lev, M., Michelson, B., Ben Zeev, R., Fischetto, M., Gentile, S., Battaglia, L., Giordano, L., Pinelli, Boccone L., Ruggieri, S., Bigoni, A., Ferlini, M. A., Donati, E., Procopio, G., Caridi, F., Faravelli, G., Ghiggeri, S., Briuglia, C. D., Salpietro, G., Tortorella, S., D'Arrigo, C., Pantaleoni, D., Riva, G., Uziel, A. M., Laverda, A., Permunian, S., Bova, R., Battini, M. R., Cilio, M., Di Sabato, Leuzzi, Vincenzo, Parisi, Pasquale, A., Simonati, A. A., Al Tawari, L., Bastaki, Ahmad M. M., De Jong, R., Koul, A., Rajab, M., Azam, C., Barbot, B., Rodriguez, I., Pascual Castroviejo, H., Kayserili, S., Comu, M., Akcaku, L., Al Gazali, L., Sztriha, D., Nicholl, C. G., Wood, C., Bennett, J., Hurst, R., Hennekam, M., Lee, S., Berne, H., Sanchez, A. E., Clark, E., Demarco, C., Donahue

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/11573/227892; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-47149084412; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000257476200008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a; http://www.scopus.com/inward/record.url?eid=2-s2.0-47149084412&partnerID=65&md5=44e4a02e127be0ae7ab075b69af48255

الاتاحة: http://hdl.handle.net/11573/227892
https://doi.org/10.1111/j.1399-0004.2008.01047.x
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=000257476200008&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a
http://www.scopus.com/inward/record.url?eid=2-s2.0-47149084412&partnerID=65&md5=44e4a02e127be0ae7ab075b69af48255

المؤلفون: W B, Dobyns, E, Berry-Kravis, N J, Havernick, K R, Holden, D, Viskochil

المصدر: American journal of medical genetics. 86(4)

مصطلحات موضوعية: Cerebral Cortex, Male, Epilepsy, X Chromosome, Genetic Linkage, Infant, Newborn, Brain, Infant, Syndrome, Magnetic Resonance Imaging, Phenotype, Child, Preschool, Humans, Female, Genitalia, Agenesis of Corpus Callosum

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::0bba76cd9f13a72357217a84858f39c1
https://pubmed.ncbi.nlm.nih.gov/10494089

المؤلفون: D, Viskochil

المصدر: American journal of medical genetics. 89(1)

مصطلحات موضوعية: Neurofibromatosis 2, Neurofibromatosis 1, Neurofibromin 1, Genes, Neurofibromatosis 1, Chromosome Mapping, Humans, Proteins, Nerve Tissue Proteins, Exons, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::41ee0008024da5723208cb737c70142a
https://pubmed.ncbi.nlm.nih.gov/10532908

المؤلفون: D H, Gutmann, A, Aylsworth, J C, Carey, B, Korf, J, Marks, R E, Pyeritz, A, Rubenstein, D, Viskochil

المصدر: JAMA. 278(1)

مصطلحات موضوعية: Neurofibromatosis 2, Neurofibromatosis 1, Genes, Neurofibromatosis 2, Genes, Neurofibromatosis 1, Humans, Genetic Testing, Severity of Illness Index

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::12b36dad84682712384ef3efcc3beed0
https://pubmed.ncbi.nlm.nih.gov/9363966

المؤلفون: R M, Cawthon, L B, Andersen, A M, Buchberg, G F, Xu, P, O'Connell, D, Viskochil, R B, Weiss, M R, Wallace, D A, Marchuk, M, Culver

المصدر: Genomics. 9(3)

مصطلحات موضوعية: Genomic Library, Neurofibromatosis 1, Base Sequence, Molecular Sequence Data, Chromosome Mapping, Exons, Introns, Translocation, Genetic, Blotting, Southern, Mice, Sequence Homology, Nucleic Acid, Mutation, Proto-Oncogenes, Animals, Humans, Amino Acid Sequence, DNA Probes, Cell Line, Transformed, Chromosomes, Human, Pair 17

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::46b3e8286742f515ecf0fabedd72353f
https://pubmed.ncbi.nlm.nih.gov/1903357

المؤلفون: Angela Peron, Felice D'Arco, Kimberly A. Aldinger, Constance Smith-Hicks, Christiane Zweier, Gyri A. Gradek, Kimberley Bradbury, Andrea Accogli, Erica F. Andersen, Ping Yee Billie Au, Roberta Battini, Daniah Beleford, Lynne M. Bird, Arjan Bouman, Ange-Line Bruel (O)yvind L(o)vold Busk, Philippe M. Campeau, Valeria Capra, Colleen Carlston, Jenny Carmichael, Anna Chassevent, Jill Clayton-Smith, Michael J Bamshad, Dawn L. Earl, Laurence Faivre, Christophe Philippe, Patrick Ferrerira, Luitgard Graul-Neumann, Mary J. Green, Darrah Haffner, Parthiv Haldipur, Suhair Hanna, Gunnar Houge, Jane Hurst, Cornelia Kraus, Birgit Elisabeth Kristiansen, James Lespinasse, Karen J. Low, Sally Ann Lynch, Sofia Maia, Rong Mao, Ruta Marcinkute, Catherine Melver, Kimberly McDonald, Tara Montgomery, Manuela Morleo, Constance Motter, Amanda S. Openshaw, Janice Cox Palumbos, Aditi Shah Parikh, Richard Person, Megha Desai, Juliette Piard, Rolph Pfundt, Marcello Scala, Margaux Serey-Gaut, Anne Slavotinek, Mohnish Suri, Claire Turner, Tatiana Tvrdik, Karin Weiss, Ingrid M. Wentzensen, Marcella Zollino, Bert B. A. de Vries, Francois Guillemot, William B. Dobyns, David Viskochil, Cristina Dias

المساهمون: A. Peron, F. D'Arco, K.A. Aldinger, C. Smith-Hick, C. Zweier, G.A. Gradek, K. Bradbury, A. Accogli, E.F. Andersen, P. Yee Billie Au, R. Battini, D. Beleford, L.M. Bird, A. Bouman, A. Bruel (O)yvind L(o)vold Busk, P.M. Campeau, V. Capra, C. Carlston, J. Carmichael, A. Chassevent, J. Clayton-Smith, M. J Bamshad, D.L. Earl, L. Faivre, C. Philippe, P. Ferrerira, L. Graul-Neumann, M.J. Green, D. Haffner, P. Haldipur, S. Hanna, G. Houge, J. Hurst, C. Krau, B. Elisabeth Kristiansen, J. Lespinasse, K.J. Low, S. Ann Lynch, S. Maia, R. Mao, R. Marcinkute, C. Melver, K. Mcdonald, T. Montgomery, M. Morleo, C. Motter, A.S. Openshaw, J. Cox Palumbo, A. Shah Parikh, R. Person, M. Desai, J. Piard, R. Pfundt, M. Scala, M. Serey-Gaut, A. Slavotinek, M. Suri, C. Turner, T. Tvrdik, K. Wei, I.M. Wentzensen, M. Zollino, B.B.A. de Vrie, F. Guillemot, W.B. Dobyn, D. Viskochil, C. Dias

مصطلحات موضوعية: BCL11A, rare disease, intellectual disability, neurodevelopmental disorder, fetal hemoglobin, cerebellar abnormalitie, microcephaly, Settore MED/03 - Genetica Medica

Relation: numberofpages:32; http://hdl.handle.net/2434/884476; https://www.medrxiv.org/content/10.1101/2021.09.06.21262776v1

الاتاحة: http://hdl.handle.net/2434/884476
https://doi.org/10.1101/2021.09.06.21262776
https://www.medrxiv.org/content/10.1101/2021.09.06.21262776v1