المؤلفون: A. Adam, J. Robison, J. Lu, R. Jose, N. Badran, T. Vivas-Buitrago, D. Rigamonti, A. Sattar, O. Omoush, M. Hammad, M. Dawood, M. Maghaslah, T. Belcher, K. Carson, J. Hoffberger, I. Jusué Torres, S. Foley, S. Yasar, Q. A. Thai, J. Wemmer, P. Klinge, L. Al-Mutawa, H. Al-Ghamdi, K. A. Carson, M. Asgari, D. de Zélicourt, V. Kurtcuoglu, S. Garnotel, S. Salmon, O. Balédent, A. Lokossou, G. Page, L. Balardy, Z. Czosnyka, P. Payoux, E. A. Schmidt, M. Zitoun, M. A. Sevestre, N. Alperin, I. Baudracco, C. Craven, S. Matloob, S. Thompson, P. Haylock Vize, L. Thorne, L. D. Watkins, A. K. Toma, Karl Bechter, A. C. Pong, L. Jugé, L. E. Bilston, S. Cheng, W. Bradley, F. Hakim, J. F. Ramón, M. F. Cárdenas, J. S. Davidson, C. García, D. González, S. Bermúdez, N. Useche, J. A. Mejía, P. Mayorga, F. Cruz, C. Martinez, M. C. Matiz, M. Vallejo, K. Ghotme, H. A. Soto, D. Riveros, A. Buitrago, M. Mora, L. Murcia, S. Bermudez, D. Cohen, D. Dasgupta, C. Curtis, L. Domínguez, A. J. Remolina, M. A. Grijalba, K. J. Whitehouse, R. J. Edwards, A. Eleftheriou, F. Lundin, K. N. Fountas, E. Z. Kapsalaki, H. F. Smisson, J. S. Robinson, M. J. Fritsch, W. Arouk, M. Garzon, M. Kang, K. Sandhu, D. Baghawatti, K. Aquilina, G. James, D. Thompson, M. Gehlen, M. Schmid Daners, A. Eklund, J. Malm, D. Gomez, M. Guerra, M. Jara, M. Flores, K. Vío, I. Moreno, S. Rodríguez, E. Ortega, E. M. Rodríguez, J. P. McAllister, M. M. Guerra, D. M. Morales, D. Sival, A. Jimenez, D. D. Limbrick, M. Ishikawa, S. Yamada, K. Yamamoto, A. Junkkari, A. Häyrinen, T. Rauramaa, H. Sintonen, O. Nerg, A. M. Koivisto, R. P. Roine, H. Viinamäki, H. Soininen, A. Luikku, J. E. Jääskeläinen, V. Leinonen, U. Kehler, O. Lilja-Lund, K. Kockum, E. M. Larsson, K. Riklund, L. Söderström, P. Hellström, K. Laurell, M. Kojoukhova, A. Sutela, R. Vanninen, K. I. Vanha, M. Timonen, J. Rummukainen, V. Korhonen, S. Helisalmi, E. Solje, A. M. Remes, J. Huovinen, J. Paananen, M. Hiltunen, M. Kurki, B. Martin, F. Loth, M. Luciano, A. J. Luikku, A. Hall, S. K. Herukka, J. Mattila, J. Lötjönen, I. Alafuzoff, I. Jurjević, M. Miyajima, M. Nakajima, H. Murai, T. Shin, D. Kawaguchi, C. Akiba, I. Ogino, K. Karagiozov, H Arai, R. C. Reis, M. J. Teixeira, C. G. Valêncio, D. da Vigua, L. Almeida-Lopes, M. W. Mancini, F. C. G. Pinto, R. H. Maykot, G. Calia, J. Tornai, S. S. S. Silvestre, G. Mendes, V. Sousa, B. Bezerra, P. Dutra, P. Modesto, M. F. Oliveira, C. E. Petitto, H. Pulhorn, A. Chandran, C. McMahon, A. S. Rao, M. Jumaly, D. Solomon, A. Moghekar, N. Relkin, M. Hamilton, H. Katzen, M. Williams, T. Bach, S. Zuspan, R. Holubkov, A. Rigamonti, G. Clemens, P. Sharkey, A. Sanyal, E. Sankey, K. Rigamonti, S. Naqvi, A. Hung, E. Schmidt, F. Ory-Magne, P. Gantet, A. Guenego, A. C. Januel, P. Tall, N. Fabre, L. Mahieu, C. Cognard, L. Gray, J. A. Buttner-Ennever, K. Takagi, K Onouchi, S. D. Thompson, L. D. Thorne, H. M. Tully, T. L. Wenger, W. A. Kukull, D. Doherty, W. B. Dobyns, D. Moran, S. Vakili, M. A. Patel, B. Elder, C. R. Goodwin, J. A. Crawford, M. V. Pletnikov, J. Xu, A. Blitz, D. A. Herzka, H. Guerrero-Cazares, A. Quiñones-Hinojosa, S. Mori, P. Saavedra, H. Treviño, K. Maitani, W. C. Ziai, V. Eslami, S. Nekoovaght-Tak, R. Dlugash, G. Yenokyan, N. McBee, D. F. Hanley

المصدر: Fluids and Barriers of the CNS, Vol 14, Iss S1, Pp 1-21 (2017)

مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12987-017-0054-5; https://doaj.org/toc/2045-8118

URL الوصول: https://doaj.org/article/8a42af89e7804f33b91b9e300cf6c6aa

المؤلفون: N Philip, B Chabrol, A-m Lossi, C Cardoso, R Guerrini, W B Dobyns, C Raybaud, L Villard, J. Med Genet, Email Alerting, J Med Genet

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.inmed.univ-mrs.fr/maj/upload/publications/J Med Genet 2003 Philip.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.378.8614; http://www.inmed.univ-mrs.fr/maj/upload/publications/J Med Genet 2003 Philip.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.378.8614
http://www.inmed.univ-mrs.fr/maj/upload/publications/J Med Genet 2003 Philip.pdf

المؤلفون: C L Martin, D J Waggoner, A Wong, S Uhrig, J A Roseberry, J F Hedrick, S D Pack, K Russell, E Zackai, W B Dobyns, D H Ledbetter, J Med Genet

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734978/pdf/v039p00734.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.691.456; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734978/pdf/v039p00734.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.691.456
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734978/pdf/v039p00734.pdf

المؤلفون: Jamie Hoffberger, Karin Kockum, I. Jusué Torres, Fernando Hakim, M. Kang, David Cohen, Kemel A. Ghotme, Maria Kojoukhova, Armelle Lokossou, Juan Fernando Ramón, Jamie Robison, M. Vallejo, Otto Lilja-Lund, Anne M. Remes, Fredrik Lundin, Carlo Emanuel Petitto, Samir A Matloob, P. Sharkey, U. Kehler, Mark G. Luciano, A. Sattar, Shaokoon Cheng, M. Ishikawa, P. Saavedra, Tito Vivas-Buitrago, M. Flores, M. Schmid Daners, Hannah M. Tully, Juliana Benevenuto Tornai, Mahdi Asgari, Jussi Mattila, L. Mahieu, S. Foley, Lynne E. Bilston, Simon Garnotel, Jennifer Lu, Diane de Zélicourt, M. Hammad, Anders Eklund, Norman R. Relkin, Heimo Viinamäki, D. Moran, Stéphanie Salmon, David D. Limbrick, K. A. Carson, Ville E. Korhonen, J. A. Buttner-Ennever, S. D. Thompson, Nicolás Useche, D. Baghawatti, Ville Leinonen, Pierre Payoux, S. Mori, Eric A. Schmidt, S. Zuspan, Manuel Gehlen, Ossi Nerg, William G. Bradley, Daniel F. Hanley, D. M. Morales, K Onouchi, A. J. Luikku, W. Arouk, Rachel Dlugash, Seppo Helisalmi, M. A. Patel, L. D. Thorne, Anette Hall, C. García, Simon D Thompson, Paulo Cesar Modesto, M. W. Mancini, Abanti Sanyal, Gayane Yenokyan, L. Gray, Hugh F. Smisson, Mitja I. Kurki, Manoel Jacobsen Teixeira, Anne M Koivisto, S. Naqvi, P. Mayorga, Franz Marie Cruz, Deborah A Sival, C. Martinez, Joe Sam Robinson, Mikko Hiltunen, M. Mora, Debayan Dasgupta, Carmel Curtis, A. Buitrago, Gabriel André da Silva Mendes, M. Garzon, Laurent Balardy, K. Yamamoto, D. Kawaguchi, Vartan Kurtcuoglu, Anne Christine Januel, A. Hung, Eduardo Ortega, A. Häyrinen, Gregory James, Ari M. Blitz, Claudia Craven, T. Bach, P. Gantet, Jyrki Lötjönen, M. Timonen, Esteban M. Rodríguez, Mark G. Hamilton, L. D. Watkins, James P. McAllister, Ehud J. Schmidt, L. Murcia, V. Sousa, Andreas Eleftheriou, K. Carson, Fernando Campos Gomes Pinto, Heather Katzen, I. Jurjević, P. Haylock Vize, Masakazu Miyajima, Bryn A. Martin, Joshua Crawford, Zofia Czosnyka, D. Gomez, L. Al-Mutawa, Daniele Rigamonti, B. Bezerra, Benjamin D. Elder, M. A. Sevestre, P. Dutra, M. Jumaly, Gwenaël Pagé, K. Rigamonti, I. Moreno, Irina Alafuzoff, Monserrat Guerra, S. Yasar, H. A. Soto, Ahmed K Toma, D. Thompson, Irene Baudracco, Heinke Pülhorn, C. G. Valêncio, Eric W. Sankey, Walter A. Kukull, Harri Sintonen, Olivier Balédent, Alice Pong, H. Treviño, R. Jose, G. Calia, M. F. Oliveira, M. Dawood, Quoc Anh Thai, Karin Vío, A. J. Remolina, R. H. Maykot, Daniel A. Herzka, Arun Chandran, M. F. Cárdenas, Mikhail V. Pletnikov, Sanna-Kaisa Herukka, Lars Söderström, C. R. Goodwin, Jiadi Xu, Noam Alperin, Marcie R. Williams, K. Aquilina, K. Takagi, Maryoris Jara, K. Maitani, L. Almeida-Lopes, Christophe Cognard, K. Karagiozov, Alejandro P. Adam, Sonia Bermúdez, Katrine Riklund, Fabienne Ory-Magne, A. Guenego, T. Belcher, M. Zitoun, Diego Ernesto Lira González, Hugo Guerrero-Cazares, Eino Solje, Jussi Paananen, O. Omoush, Hisayuki Murai, Toshimasa Shin, M. A. Grijalba, Nelly Fabre, David Solomon, Sara Rodríguez, K. J. Whitehouse, K. I. Vanha, S. S. S. Silvestre, P. Tall, Juha E. Jääskeläinen, Per Hellström, H. Al-Ghamdi, Petra M. Klinge, Elna-Marie Larsson, Juan Armando Mejía, Richard J. Edwards, Jan Malm, Francis Loth, A. Rigamonti, Joel Huovinen, Ikuko Ogino, Antti J. Luikku, V. Eslami, Chihiro Akiba, Wendy C. Ziai, S. Yamada, Rodolfo Casimiro Reis, W. B. Dobyns, M. C. Matiz, Anna Sutela, Katarina Laurell, J. S. Davidson, Montserrat Guerra, Lauriane Jugé, Abhay Moghekar, A. S. Rao, Ritva Vanninen, K. Sandhu, Kostas N. Fountas, Hajime Arai, G. Clemens, D. Riveros, Dan Doherty, J. Wemmer, Richard Holubkov, S. Vakili, Risto P. Roine, Madoka Nakajima, T. L. Wenger, Saman Nekoovaght-Tak, Karl Bechter, Antti Junkkari, Antonio J. Jiménez, Nichol McBee, Catherine McMahon, D. da Vigua, L. Domínguez, Tuomas Rauramaa, M. J. Fritsch, Jaana Rummukainen, N. Badran, M. Maghaslah, Hilkka Soininen, Alfredo Quiñones-Hinojosa, Effie Z. Kapsalaki, Lewis Thorne

المساهمون: Université Catholique de Louvain = Catholic University of Louvain (UCL), Laboratoire Avancé de Spectroscopie pour les Intéractions la Réactivité et l'Environnement - UMR 8516 (LASIRE), Institut de Chimie du CNRS (INC)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Inönü University, Silicon Nanoelectronics Photonics and Structures (SiNaps), PHotonique, ELectronique et Ingénierie QuantiqueS (PHELIQS), Université Grenoble Alpes [2016-2019] (UGA [2016-2019])-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 [2016-2019] (UGA [2016-2019])-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), CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), Université de Picardie Jules Verne (UPJV), CHU Amiens-Picardie

المصدر: Fluids and Barriers of the CNS
Fluids and Barriers of the CNS, 2017, 14 (S1), pp.15. ⟨10.1186/s12987-017-0054-5⟩
Fluids and Barriers of the CNS, Vol 14, Iss S1, Pp 1-21 (2017)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], 010401 analytical chemistry, MEDLINE, General Medicine, medicine.disease, 01 natural sciences, Meeting Abstracts, lcsh:RC346-429, 0104 chemical sciences, Hydrocephalus, Cellular and Molecular Neuroscience, Text mining, Developmental Neuroscience, Neurology, Medicine, business, lcsh:Neurology. Diseases of the nervous system, ComputingMilieux_MISCELLANEOUS

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac35bce706ae386048e5e16c374be1d7
https://pubmed.ncbi.nlm.nih.gov/28929972

المؤلفون: E. V. Bawle, E. P. Carmany, B. Hudson, W. B. Dobyns, Ryan N. Traylor, J E Spence, L. G. Shaffer, Anne M. Bandholz, C. M. Powell, R. A. Schultz, P. Wheeler, J. A. Rosenfeld, B. C. Ballif

المصدر: Molecular Syndromology. 3:102-112

مصطلحات موضوعية: biology, business.industry, Hemizygosity, Cell fate determination, medicine.disease, Bioinformatics, Craniosynostosis, Corticogenesis, Intellectual disability, Genetics, medicine, biology.protein, Autism, Axon guidance, TBR1, business, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::420a5db4f8c744fb5f670a2e8574a9cb
https://doi.org/10.1159/000342008

المؤلفون: V. Conti, A. Carabalona, E. Pallesi Pocachard, E. Parrini, R. J. Leventer, E. Buhler, G. McGillivray, F. J. Michel, P. Striano, D. Mei, F. Watrin, S. Lise, A. T. Pagnamenta, J. C. Taylor, U. Kini, J. Clayton Smith, W. B. Dobyns, I. E. Scheffer, S. P. Robertson, S. F. Berkovic, A. Represa, D. A. Keays, C. Cardoso, R. Guerrini, NOVARA, FRANCESCA, ZUFFARDI, ORSETTA

المساهمون: V., Conti, A., Carabalona, E., Pallesi Pocachard, E., Parrini, R. J., Leventer, E., Buhler, G., Mcgillivray, F. J., Michel, P., Striano, D., Mei, F., Watrin, S., Lise, A. T., Pagnamenta, J. C., Taylor, U., Kini, J., Clayton Smith, Novara, Francesca, Zuffardi, Orsetta, W. B., Dobyn, I. E., Scheffer, S. P., Robertson, S. F., Berkovic, A., Represa, D. A., Keay, C., Cardoso, R., Guerrini

مصطلحات موضوعية: Abnormalitie, Multiple, genetics/pathology/physiopathology, Adolescent, Adult, Animals, Brain, abnormalities/pathology/physiopathology, Child, Chromosome Deletion, Chromosome, Human, Pair 6, genetics, Cohort Studies, Developmental Disabilitie, Epilepsy, Exome, Female, Haploinsufficiency, Humans, Infant, Magnetic Resonance Imaging, Male, Malformations of Cortical Development, Group II, Mutation, Periventricular Nodular Heterotopia, Rats, Rat

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/24056535; info:eu-repo/semantics/altIdentifier/wos/WOS:000326291800020; volume:136; issue:11; firstpage:3378; lastpage:3394; numberofpages:17; journal:BRAIN; http://hdl.handle.net/11571/986411; info:eu-repo/semantics/altIdentifier/scopus/eid=2-s2.0-84890545399; http://dx.doi.org/10.1093/brain/awt249

الاتاحة: http://hdl.handle.net/11571/986411
https://doi.org/10.1093/brain/awt249

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: E. Parrini, A. Ramazzotti, W. B. Dobyns, D. Mei, F. Moro, P. Veggiotti, C. Marini, E. H. Brilstra, B. D. Bernardina, L. Goodwin, A. Bodell, M. C. Jones, M. Nangeroni, S. Palmeri, E. Said, J. W. Sander, P. Striano, Y. Takahashi, L. Van Maldergem, G. Leonardi, M. Wright, C. A. Walsh, R. Guerrini

المساهمون: E. Parrini, A. Ramazzotti, W.B. Dobyn, D. Mei, F. Moro, P. Veggiotti, C. Marini, E.H. Brilstra, B.D. Bernardina, L. Goodwin, A. Bodell, M.C. Jone, M. Nangeroni, S. Palmeri, E. Said, J.W. Sander, P. Striano, Y. Takahashi, L. Van Maldergem, G. Leonardi, M. Wright, C.A. Walsh, R. Guerrini

مصطلحات موضوعية: periventricular heterotopia, filamin A, FLNA, mutation, genetic counselling, Settore MED/39 - Neuropsichiatria Infantile

Relation: info:eu-repo/semantics/altIdentifier/pmid/16684786; info:eu-repo/semantics/altIdentifier/wos/WOS:000238761200029; volume:129; issue:7; firstpage:1892; lastpage:1906; numberofpages:15; journal:BRAIN; http://hdl.handle.net/2434/667900; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-33745685474

الاتاحة: http://hdl.handle.net/2434/667900
https://doi.org/10.1093/brain/awl125

المؤلفون: Ann MacLarnon, Robert D. Martin, J. L. Phillips, W. B. Dobyns, Patrick Ryan Williams, Laure Dussubieux

المصدر: Science (New York, N.Y.). 312(5776)

مصطلحات موضوعية: Adult, Microcephaly, Cephalometry, Paleopathology, Zoology, Biology, Body size, medicine, Animals, Body Size, Humans, History, Ancient, Multidisciplinary, Fossils, Skull, Brain, Hominidae, Anatomy, Organ Size, medicine.disease, biology.organism_classification, Homo floresiensis, Endocast

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::732f4e931e719ec1de5f5e63655318d1
https://pubmed.ncbi.nlm.nih.gov/16741085

المؤلفون: R J, Leventer, P L, Mills, W B, Dobyns

المصدر: American journal of medical genetics. 97(3)

مصطلحات موضوعية: Cerebral Cortex, Brain Diseases, X Chromosome, Genetic Linkage, Urogenital Abnormalities, Humans, Genetic Counseling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b54a1b5f505a63b78401cd059ba49bf1
https://pubmed.ncbi.nlm.nih.gov/11449490

المؤلفون: W. D. Graf, J. B. Le Pichon, D. C. Bittel, A. T. Abdelmoity, S. Yu, S. Ashwal, D. Michelson, L. Plawner, W. B. Dobyns

المصدر: Neurology. 74:1080-1081

مصطلحات موضوعية: Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::649b8e3a96c3120f48a31874ca2c9d54
https://doi.org/10.1212/wnl.0b013e3181d5e077

المؤلفون: J G, Gleeson, R F, Luo, P E, Grant, R, Guerrini, P R, Huttenlocher, M J, Berg, S, Ricci, R, Cusmai, J W, Wheless, S, Berkovic, I, Scheffer, W B, Dobyns, C A, Walsh

المصدر: Annals of neurology. 47(2)

مصطلحات موضوعية: Adult, Cerebral Cortex, Doublecortin Domain Proteins, Adolescent, Child, Preschool, Mutation, Neuropeptides, Brain, Humans, Female, Child, Magnetic Resonance Imaging, Microtubule-Associated Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6904550f4b985ad93fcc94d9fceb5737
https://pubmed.ncbi.nlm.nih.gov/10665503

المؤلفون: E. Morava, R. A. Wevers, M. A. Willemsen, D. Lefeber, L. Van Maldergem, W. B. Dobyns

المصدر: Neurology. 73:1164-1165

مصطلحات موضوعية: Malformations of Cortical Development, Apolipoprotein C-III, Proton-Translocating ATPases, Glycosylation, Mutation, Brain, Humans, Neurology (clinical), Dystroglycans, Cutis Laxa, Congenital Abnormalities, Receptors, G-Protein-Coupled

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86fee0b484080172161a2173c80cc031
https://doi.org/10.1212/wnl.0b013e3181b26daf

المؤلفون: B, Kerner, J M, Graham, J A, Golden, S H, Pepkowitz, W B, Dobyns

المصدر: American journal of medical genetics. 87(5)

مصطلحات موضوعية: Cerebral Cortex, Cleft Palate, Male, Brain Diseases, Fetus, Mesencephalon, Cerebellum, Infant, Newborn, Humans, Abnormalities, Multiple, Female, Immunohistochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::76359b687c761cd9bf10ece435c7bcfe
https://pubmed.ncbi.nlm.nih.gov/10594886

المؤلفون: L A, Schimmenti, H H, Shim, J D, Wirtschafter, V A, Panzarino, C E, Kashtan, S J, Kirkpatrick, D S, Wargowski, T D, France, E, Michel, W B, Dobyns

المصدر: Human mutation. 14(5)

مصطلحات موضوعية: Adult, Male, Base Sequence, PAX2 Transcription Factor, Mutation, Missense, Syndrome, Kidney, Arnold-Chiari Malformation, Pedigree, Coloboma, DNA-Binding Proteins, Mice, Phenotype, Child, Preschool, Mutation, Animals, Humans, Abnormalities, Multiple, Female, Amino Acid Sequence, DNA Primers, Genes, Dominant, Transcription Factors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::d8d69ae3de045d847c1a6d4f980e11cc
https://pubmed.ncbi.nlm.nih.gov/10533062

المؤلفون: R, Guerrini, E, Andermann, M, Avoli, W B, Dobyns

المصدر: Advances in neurology. 79

مصطلحات موضوعية: Cerebral Cortex, Epilepsy, Humans, Congenital Abnormalities

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9f94056283502e975d3aab0859686102
https://pubmed.ncbi.nlm.nih.gov/10514808

المؤلفون: D, Satran, M E, Pierpont, W B, Dobyns

المصدر: American journal of medical genetics. 86(5)

مصطلحات موضوعية: Male, Cerebellum, Humans, Abnormalities, Multiple, Eye Abnormalities, Syndrome, Child, Kidney

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::29b7f2971b47e6254722d30f30902c38
https://pubmed.ncbi.nlm.nih.gov/10508989

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