المؤلفون: Khalaf-Nazzal, R., Fasham, J., Inskeep, K. A., Blizzard, L. E., Leslie, J. S., Wakeling, M. N., Ubeyratna, N., Mitani, T., Griffith, J. L., Baker, W., Al-Hijawi, F., Keough, K. C., Gezdirici, A., Pena, L., Spaeth, C. G., Turnpenny, P. D., Walsh, J. R., Ray, R., Neilson, A., Kouranova, E., Cui, X., Curiel, D. T., Pehlivan, D., Akdemir, Z. C., Posey, J. E., Lupski, J. R., Dobyns, W. B., Stottmann, R. W., Crosby, A. H., Baple, E. L.

مصطلحات موضوعية: Humans, Animals, Mice, Lissencephaly/genetics, Alleles, Tubulin/genetics, Phenotype, Nervous System Malformations/genetics, Classical Lissencephalies and Subcortical Band Heterotopias/genetics, Knockout, Microtubule-Associated Proteins/genetics, Mark2, agyria, autosomal recessive, lissencephaly, neurodevelopmental disorder, pachygyria, patronin, tubulinopathy

Relation: https://linkinghub.elsevier.com/retrieve/pii/S0002-9297(22)00415-3; Am J Hum Genet. 2022 Nov 3;109(11):2068-2079. doi:10.1016/j.ajhg.2022.09.012. Epub 2022 Oct 24.; https://rde.dspace-express.com/handle/11287/622694; American journal of human genetics; PMC9674946

الاتاحة: https://doi.org/10.1016/j.ajhg.2022.09.012
https://rde.dspace-express.com/handle/11287/622694

المؤلفون: Valente, E M, Brancat, F, Silhavy, J L, Castori, M, March, S E, Barrano, G, Bertini, E, Boltshauser, E, Zaki, M S, Abdel-Aleem, A, Abdel-Salam, GMH, Bellacchlo, E, Battini, R, Cruse, R P, Dobyns, W B, Krishnamoorthy, K S, Lagier-Tourenne, C, Magee, A, Pascual-Castroviejo, I, Salpietro, C D, Sarco, D, Dallapiccola, B, Gleeson, J G

المصدر: Annals of Neurology. 59(3)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4jp5t97n

المؤلفون: Haldipur P., Aldinger K. A., Bernardo S., Deng M., Timms A. E., Overman L. M., Winter C., Lisgo S. N., Razavi F., Silvestri E., Manganaro L., Adle-Biasette H., Guilmiot F., Russo R., Kidron D., Hof P. R., Gerrelli D., Lindsay S. J., Dobyns W. B., Glass I. A., Alexandre P., Millen K. J.

المساهمون: Haldipur, P., Aldinger, K. A., Bernardo, S., Deng, M., Timms, A. E., Overman, L. M., Winter, C., Lisgo, S. N., Razavi, F., Silvestri, E., Manganaro, L., Adle-Biasette, H., Guilmiot, F., Russo, R., Kidron, D., Hof, P. R., Gerrelli, D., Lindsay, S. J., Dobyns, W. B., Glass, I. A., Alexandre, P., Millen, K. J.

مصطلحات موضوعية: animal, cerebellum, Dandy-Walker syndrome, human, mice, nervous system malformation, spatio-temporal analysi, species specificity, stem cell, transcriptome

Relation: info:eu-repo/semantics/altIdentifier/pmid/31624095; info:eu-repo/semantics/altIdentifier/wos/WOS:000493177900041; volume:366; issue:6464; firstpage:454; lastpage:460; numberofpages:7; journal:SCIENCE; https://hdl.handle.net/11573/1680844; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074118853

الاتاحة: https://hdl.handle.net/11573/1680844
https://doi.org/10.1126/science.aax7526

المؤلفون: Mattison K. A., Tossing G., Mulroe F., Simmons C., Butleer K. M., Schreiber A., Alsadah A., Neeilson D. E., Naess K., Wedell A., Wredenberg A., Sorlin A., Mccann E., Burghel G. J., Menendez B., Hoganson G. E., Botto L. D., Filloux F. M., Aledo-Serrano A., Gil-Nagel A., Tatton-Brown K., Verbeek N. E., Van Der Zwaag B., Aleck K. A., Fazenbaker A. C., Balciuniene J., Dubbs H. A., Marsh E. D., Garber K., Ek J., Duno M., Hoei-Hansen C. E., Deardorff M. A., Raca G., Quindipan C., Van Hirtum-Das M., Breckpot J., Hammer T. B., Moller R. S., Whitney A., Douglas A. G. L., Kharbanda M., Brunetti-Pierri N., Morleo M., Nigro V., May H. J., Tao J. X., Argilli E., Sherr E. H., Dobyns W. B., Baines R. A., Warwicker J., Parker J. A., Banka S., Campeau P. M., Escayg A.

المساهمون: Mattison, K. A., Tossing, G., Mulroe, F., Simmons, C., Butleer, K. M., Schreiber, A., Alsadah, A., Neeilson, D. E., Naess, K., Wedell, A., Wredenberg, A., Sorlin, A., Mccann, E., Burghel, G. J., Menendez, B., Hoganson, G. E., Botto, L. D., Filloux, F. M., Aledo-Serrano, A., Gil-Nagel, A., Tatton-Brown, K., Verbeek, N. E., Van Der Zwaag, B., Aleck, K. A., Fazenbaker, A. C., Balciuniene, J., Dubbs, H. A., Marsh, E. D., Garber, K., Ek, J., Duno, M., Hoei-Hansen, C. E., Deardorff, M. A., Raca, G., Quindipan, C., Van Hirtum-Das, M., Breckpot, J., Hammer, T. B., Moller, R. S., Whitney, A., Douglas, A. G. L., Kharbanda, M., Brunetti-Pierri, N., Morleo, M., Nigro, V., May, H. J., Tao, J. X., Argilli, E., Sherr, E. H., Dobyns, W. B., Baines, R. A., Warwicker, J., Parker, J. A., Banka, S., Campeau, P. M., Escayg, A.

مصطلحات موضوعية: ATP6V0C, V-ATPase, VMA3, epilepsy genetic, neurodevelopmental disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/36074901; info:eu-repo/semantics/altIdentifier/wos/WOS:000927881300001; journal:BRAIN; https://hdl.handle.net/11591/482528

الاتاحة: https://hdl.handle.net/11591/482528
https://doi.org/10.1093/brain/awac330

المؤلفون: Caron, V., Chassaing, N., Ragge, N., Boschann, F., My-Hoa Ngu, A., Meloche, E., Chorfi, S., Lakhani, S. A., Ji, W., Steiner, L., Marcadier, J., Jansen, P. R., Van De Pol, L. A., Van Hagen, J. M., Russi, A. S., Le Guyader, G., Nordenskjöld, M., Nordgren, A., Anderlid, B. M., Plaisancié, J., Stoltenburg, C., Horn, D., Drenckhahn, A., Hamdan, F. F., Lefebvre, M., Attie-Bitach, T., Forey, P., Smirnov, V., Ernould, F., Jacquemont, M. L., Grotto, S., Alcantud, A., Coret, A., Ferrer-Avargues, R., Srivastava, S., Vincent, Catherine, Romoser, S., Safina, N., Saade, D., Lupski, J. R., Calame, D. G., Geneviève, D., Chatron, N., Schluth-Bolard, C., Myers, K. A., Dobyns, W. B., Calvas, P., Salmon, C., Holt, R., Elmslie, F., Allaire, M., Prigozhin, D. M., Tremblay, A., Michaud, J. L.

المساهمون: Université de Lille, CHU Lille, Maladies Rares du Développement : Génétique, Régulation et Protéomique (RADEME) - ULR 7364

مصطلحات موضوعية: Dystonia, Global developmental delay, Microphthalmia, Retinoic acid, Retinoic acid receptor beta

Relation: Genet Med; http://hdl.handle.net/20.500.12210/115562

الاتاحة: https://hdl.handle.net/20.500.12210/115562

المؤلفون: Alves, C. A. P. F., Sidpra, J., Manteghinejad, A., Sudhakar, S., Massey, F. V., Aldinger, K. A., Haldipur, P., Lucato, L. T., Ferraciolli, S. F., Teixeira, S. R., Öztekin, Ö., Bhattacharya, D., Taranath, A., Prabhu, S.P., Mirsky, D. M., Andronikou, S., Millen, K. J., Barkovich, A. J., Boltshauser, E., Dobyns, W. B.

المصدر: American Journal of Neuroradiology; Oct2023, Vol. 44 Issue 10, p1201-1207, 7p

المؤلفون: De Ciantis, A, Barkovich, A. J., COSOTTINI, MIRCO, Barba, C., Montanaro, D., Costagli, M., Tosetti, M., Biagi, L., Dobyns, W. B., Guerrini, R.

المساهمون: De Ciantis, A, Barkovich, A. J., Cosottini, Mirco, Barba, C., Montanaro, D., Costagli, M., Tosetti, M., Biagi, L., Dobyns, W. B., Guerrini, R.

مصطلحات موضوعية: Adolescent, Adult, Cerebral Angiography, Cerebral Cortex, Child, Preschool, Epilepsy, Female, Human, Imaging, Three-Dimensional, Infant, Magnetic Resonance Imaging, Male, Middle Aged, Neuroimaging, Polymicrogyria, Neurology (clinical), Radiology, Nuclear Medicine and Imaging

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/25258368; info:eu-repo/semantics/altIdentifier/wos/WOS:000349656000014; volume:36; issue:2; firstpage:309; lastpage:316; numberofpages:8; journal:AJNR, AMERICAN JOURNAL OF NEURORADIOLOGY; http://hdl.handle.net/11568/770222; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84922852231; http://www.ajnr.org/content/36/2/309.full.pdf+html

الاتاحة: http://hdl.handle.net/11568/770222
https://doi.org/10.3174/ajnr.A4116
http://www.ajnr.org/content/36/2/309.full.pdf+html

المؤلفون: Wei, A. D., Wakenight, P., Zwingman, T. A., Bard, A. M., Sahai, N., Willemsen, M. H., Schelhaas, H. J., Stegmann, A. P. A., Verhoeven, J. S., De Man, S. A., Wessels, M. W., Kleefstra, T., Shinde, D. N., Helbig, K. L., Basinger, A., Wagner, V. F., Rodriguez-Buritic, D., Bryant, E., Millichap, J. J., Millen, K. J., Dobyns, W. B., Ramirez, J. M., Kalume, F. K.

المصدر: Wei , A D , Wakenight , P , Zwingman , T A , Bard , A M , Sahai , N , Willemsen , M H , Schelhaas , H J , Stegmann , A P A , Verhoeven , J S , De Man , S A , Wessels , M W , Kleefstra , T , Shinde , D N , Helbig , K L , Basinger , A , Wagner , V F , Rodriguez-Buritic , D , Bryant , E , Millichap , J J , Millen , K J , Dobyns , W ....

الاتاحة: https://pure.eur.nl/en/publications/41babf46-f0ad-4a5e-86c2-f3b862ea5593
https://doi.org/10.1152/jn.00509.2021
http://www.scopus.com/inward/record.url?scp=85133102657&partnerID=8YFLogxK
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85133102657&doi=10.1152%2fjn.00509.2021&partnerID=40&md5=ed7dc48ff3317badf5476d19126e23f8

المؤلفون: Whitehead, M T, Barkovich, M J, Sidpra, J, Alves, C A, Mirsky, D M, Öztekin, Ö, Bhattacharya, D, Lucato, L T, Sudhakar, S, Taranath, A, Andronikou, S, Prabhu, S P, Aldinger, K A, Haldipur, P, Millen, K J, Barkovich, A J, Boltshauser, E, Dobyns, W B, Mankad, K

المصدر: GW Authored Works

Relation: https://hsrc.himmelfarb.gwu.edu/gwhpubs/1595; https://doi.org/10.3174/ajnr.A7659

الاتاحة: https://hsrc.himmelfarb.gwu.edu/gwhpubs/1595
https://doi.org/10.3174/ajnr.A7659

المؤلفون: Harris H. K., Nakayama T., Lai J., Zhao B., Argyrou N., Gubbels C. S., Soucy A., Genetti C. A., Suslovitch V., Rodan L. H., Tiller G. E., Lesca G., Gripp K. W., Asadollahi R., Hamosh A., Applegate C. D., Turnpenny P. D., Simon M. E. H., Volker-Touw C. M. L., Gassen K. L. I., Binsbergen E., Pfundt R., Gardeitchik T., Vries B. B. A., Immken L. D. L., Buchanan C., Willing M., Toler T. L., Fassi E., Baker L., Vansenne F., Wang X., Ambrus J. L., Fannemel M., Posey J. E., Agolini E., Novelli A., Rauch A., Boonsawat P., Fagerberg C. R., Larsen M. J., Kibaek M., Labalme A., Poisson A., Payne K. K., Walsh L. E., Aldinger K. A., Balciuniene J., Skraban C., Gray C., Murrell J., Bupp C. P., Pascolini G., Grammatico P., Broly M., Kury S., Nizon M., Rasool I. G., Zahoor M. Y., Kraus C., Reis A., Iqbal M., Uguen K., Audebert-Bellanger S., Ferec C., Redon S., Baker J., Wu Y., Zampino G., Syrbe S., Brosse I., Jamra R. A., Dobyns W. B., Cohen L. L., Blomhoff A., Mignot C., Keren B., Courtin T., Agrawal P. B., Beggs A. H., Yu T. W.

المساهمون: Harris, H. K., Nakayama, T., Lai, J., Zhao, B., Argyrou, N., Gubbels, C. S., Soucy, A., Genetti, C. A., Suslovitch, V., Rodan, L. H., Tiller, G. E., Lesca, G., Gripp, K. W., Asadollahi, R., Hamosh, A., Applegate, C. D., Turnpenny, P. D., Simon, M. E. H., Volker-Touw, C. M. L., Gassen, K. L. I., Binsbergen, E., Pfundt, R., Gardeitchik, T., Vries, B. B. A., Immken, L. D. L., Buchanan, C., Willing, M., Toler, T. L., Fassi, E., Baker, L., Vansenne, F., Wang, X., Ambrus, J. L., Fannemel, M., Posey, J. E., Agolini, E., Novelli, A., Rauch, A., Boonsawat, P., Fagerberg, C. R., Larsen, M. J., Kibaek, M., Labalme, A., Poisson, A., Payne, K. K., Walsh, L. E., Aldinger, K. A., Balciuniene, J., Skraban, C., Gray, C., Murrell, J., Bupp, C. P., Pascolini, G., Grammatico, P., Broly, M., Kury, S., Nizon, M., Rasool, I. G., Zahoor, M. Y., Kraus, C., Reis, A., Iqbal, M., Uguen, K., Audebert-Bellanger, S., Ferec, C., Redon, S., Baker, J., Wu, Y., Zampino, G., Syrbe, S., Brosse, I., Jamra, R. A., Dobyns, W. B., Cohen, L. L., Blomhoff, A., Mignot, C., Keren, B., Courtin, T., Agrawal, P. B., Beggs, A. H., Yu, T. W.

مصطلحات موضوعية: FRX, autism, intellectual disability

Relation: info:eu-repo/semantics/altIdentifier/pmid/33658631; info:eu-repo/semantics/altIdentifier/wos/WOS:000625025700001; volume:23; issue:6; firstpage:1028; lastpage:1040; numberofpages:13; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11573/1523877; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85102065834

الاتاحة: http://hdl.handle.net/11573/1523877
https://doi.org/10.1038/s41436-021-01114-z

المؤلفون: Kalantari S., Carlston C., Alsaleh N., Abdel-Salam G. M. H., Alkuraya F., Kato M., Matsumoto N., Miyatake S., Yamamoto T., Fares-Taie L., Rozet J. -M., Chassaing N., Vincent-Delorme C., Kang-Bellin A., McWalter K., Bupp C., Palen E., Wagner M. D., Niceta M., Cesario C., Milone R., Kaplan J., Wadman E., Dobyns W. B., Filges I.

المساهمون: Kalantari, S., Carlston, C., Alsaleh, N., Abdel-Salam, G. M. H., Alkuraya, F., Kato, M., Matsumoto, N., Miyatake, S., Yamamoto, T., Fares-Taie, L., Rozet, J. -M., Chassaing, N., Vincent-Delorme, C., Kang-Bellin, A., Mcwalter, K., Bupp, C., Palen, E., Wagner, M. D., Niceta, M., Cesario, C., Milone, R., Kaplan, J., Wadman, E., Dobyns, W. B., Filges, I.

مصطلحات موضوعية: brain anomalie, hydrocephalu, intellectual disability, KIF4A, kinesinopathie, kinesins

Relation: volume:185; issue:12; firstpage:3728; lastpage:3739; numberofpages:12; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART A; https://hdl.handle.net/11571/1501383; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85111759321

الاتاحة: https://hdl.handle.net/11571/1501383
https://doi.org/10.1002/ajmg.a.62443

المؤلفون: Rodriguez-Palmero A., Boerrigter M. M., Gomez-Andres D., Aldinger K. A., Marcos-Alcalde I., Popp B., Everman D. B., Lovgren A. K., Arpin S., Bahrambeigi V., Beunders G., Bisgaard A. -M., Bjerregaard V. A., Bruel A. -L., Challman T. D., Cogne B., Coubes C., de Man S. A., Denomme-Pichon A. -S., Dye T. J., Elmslie F., Feuk L., Garcia-Minaur S., Gertler T., Giorgio E., Gruchy N., Haack T. B., Haldeman-Englert C. R., Haukanes B. I., Hoyer J., Hurst A. C. E., Isidor B., Soller M. J., Kushary S., Kvarnung M., Landau Y. E., Leppig K. A., Lindstrand A., Kleinendorst L., MacKenzie A., Mandrile G., Mendelsohn B. A., Moghadasi S., Morton J. E., Moutton S., Muller A. J., O'Leary M., Pacio-Miguez M., Palomares-Bralo M., Parikh S., Pfundt R., Pode-Shakked B., Rauch A., Repnikova E., Revah-Politi A., Ross M. J., Ruivenkamp C. A. L., Sarrazin E., Savatt J. M., Schluter A., Schonewolf-Greulich B., Shad Z., Shaw-Smith C., Shieh J. T., Shohat M., Spranger S., Thiese H., Mau-Them F. T., van Bon B., van de Burgt I., van de Laar I. M. B. H., van Drie E., van Haelst M. M., van Ravenswaaij-Arts C. M., Verdura E., Vitobello A., Waldmuller S., Whiting S., Zweier C., Prada C. E., de Vries B. B. A., Dobyns W. B., Reiter S. F., Gomez-Puertas P., Pujol A., Tumer Z.

المساهمون: Rodriguez-Palmero, A., Boerrigter, M. M., Gomez-Andres, D., Aldinger, K. A., Marcos-Alcalde, I., Popp, B., Everman, D. B., Lovgren, A. K., Arpin, S., Bahrambeigi, V., Beunders, G., Bisgaard, A. -M., Bjerregaard, V. A., Bruel, A. -L., Challman, T. D., Cogne, B., Coubes, C., de Man, S. A., Denomme-Pichon, A. -S., Dye, T. J., Elmslie, F., Feuk, L., Garcia-Minaur, S., Gertler, T., Giorgio, E., Gruchy, N., Haack, T. B., Haldeman-Englert, C. R., Haukanes, B. I., Hoyer, J., Hurst, A. C. E., Isidor, B., Soller, M. J., Kushary, S., Kvarnung, M., Landau, Y. E., Leppig, K. A., Lindstrand, A., Kleinendorst, L., Mackenzie, A., Mandrile, G., Mendelsohn, B. A., Moghadasi, S., Morton, J. E., Moutton, S., Muller, A. J., O'Leary, M., Pacio-Miguez, M., Palomares-Bralo, M., Parikh, S., Pfundt, R., Pode-Shakked, B., Rauch, A., Repnikova, E., Revah-Politi, A., Ross, M. J., Ruivenkamp, C. A. L., Sarrazin, E., Savatt, J. M., Schluter, A., Schonewolf-Greulich, B., Shad, Z., Shaw-Smith, C., Shieh, J. T., Shohat, M., Spranger, S., Thiese, H., Mau-Them, F. T., van Bon, B., van de Burgt, I., van de Laar, I. M. B. H., van Drie, E., van Haelst, M. M., van Ravenswaaij-Arts, C. M., Verdura, E., Vitobello, A., Waldmuller, S., Whiting, S., Zweier, C., Prada, C. E., de Vries, B. B. A., Dobyns, W. B., Reiter, S. F., Gomez-Puertas, P., Pujol, A., Tumer, Z.

مصطلحات موضوعية: Brain, Disks Large Homolog 4 Protein, Human, Phenotype, Autism Spectrum Disorder, Brain Disease, Intellectual Disability, Neurodevelopmental Disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/33597769; info:eu-repo/semantics/altIdentifier/wos/WOS:000618913400001; volume:23; issue:5; firstpage:888; lastpage:899; numberofpages:12; journal:GENETICS IN MEDICINE; https://hdl.handle.net/11571/1450608; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101043691

الاتاحة: https://hdl.handle.net/11571/1450608
https://doi.org/10.1038/s41436-020-01075-9

المؤلفون: Liu S., Aldinger K. A., Cheng C. V., Kiyama T., Dave M., McNamara H. K., Zhao W., Stafford J. M., Descostes N., Lee P., Caraffi S. G., Ivanovski I., Errichiello E., Zweier C., Zuffardi O., Schneider M., Papavasiliou A. S., Perry M. S., Humberson J., Cho M. T., Weber A., Swale A., Badea T. C., Mao C. -A., Garavelli L., Dobyns W. B., Reinberg D.

المساهمون: Liu, S., Aldinger, K. A., Cheng, C. V., Kiyama, T., Dave, M., Mcnamara, H. K., Zhao, W., Stafford, J. M., Descostes, N., Lee, P., Caraffi, S. G., Ivanovski, I., Errichiello, E., Zweier, C., Zuffardi, O., Schneider, M., Papavasiliou, A. S., Perry, M. S., Humberson, J., Cho, M. T., Weber, A., Swale, A., Badea, T. C., Mao, C. -A., Garavelli, L., Dobyns, W. B., Reinberg, D.

مصطلحات موضوعية: active transcription, AUTS2, brain development, ncPRC1.3, NRF1, P300, polycomb, RSTS, Animal, Brain, CREB-Binding Protein, Cell Differentiation, Chromatin, Cytoskeletal Protein, E1A-Associated p300 Protein, Embryonic Stem Cell, Female, Genomic, HEK293 Cell, Heterozygote, Human, Male, Mice, Neuron, Nuclear Respiratory Factor 1, Protein Binding, Protein Domain, Proteomic, Transcription Factor, Transcriptional Activation

Relation: info:eu-repo/semantics/altIdentifier/pmid/34637754; info:eu-repo/semantics/altIdentifier/wos/WOS:000720905700001; volume:81; issue:22; firstpage:4663; lastpage:4676.e8; journal:MOLECULAR CELL; http://hdl.handle.net/11571/1451383; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85119089779

الاتاحة: http://hdl.handle.net/11571/1451383
https://doi.org/10.1016/j.molcel.2021.09.020

المؤلفون: Mirzaa, G., Timms, A. E., Conti, V., Boyle, E. A., Girisha, K. M., Martin, B., Kircher, M., Olds, C., Juusola, J., Inestrosa Cantín, Nibaldo, Aracena Álvarez, Mariana Inés, Collins, S., Park, K., Carter, M., Glass, I., Krogeloh-Mann, I., Chitayat, D., Parikh, A. S., Bradshaw, R., Torti, E., Braddock, S., Burke, L., Ghedia, S., Stephan, M., Stewart, F., Prasad, C., Napier, M., Saitta, S., Straussberg, R., Gabbett, M., O'Connor, B. C., Keegan, C. E., Yin, L. J., Lai, A. H. M., Martin, N., McKinnon, M., Addor, M. C., Boccuto, L., Schwartz, C. E., Lanoel, A., Conway, R. L., Devriendt, K., Tatton-Brown, K., Pierpont, M. E., Painter, M., Worgan, L., Reggin, J., Hennekam, R., Tsuchiya, K., Pritchard, C. C., Gripp, K. W., Cordisco, M., Van Esch, H., Garavelli, L., Curry, C., Goriely, A., Kayserilli, H., Shendure, J., Graham, J., Guerrini, R., Dobyns, W. B.

وصف الملف: 18 páginas; application/pdf

Relation: https://doi.org/10.1172/jci.insight.87623; https://repositorio.uc.cl/handle/11534/58046

الاتاحة: https://repositorio.uc.cl/handle/11534/58046
https://doi.org/10.1172/jci.insight.87623

المؤلفون: Whitehead, M. T., Barkovich, M. J., Sidpra, J., Alves, C. A., Mirsky, D. M., Öztekin, Ö., Bhattacharya, D., Lucato, L. T., Sudhakar, S., Taranath, A., Andronikou, S., Prabhu, S. P., Aldinger, K. A., Haldipur, P., Millen, K. J., Barkovich, A. J., Boltshauser, E., Dobyns, W. B., Mankad, K.

المصدر: American Journal of Neuroradiology; Oct2022, Vol. 43 Issue 10, p1488-1493, 6p

المؤلفون: Zaki, M. S., Saleem, S. N., Dobyns, W. B., Barkovich, A. J., Bartsch, H., Dale, A. M., Ashtari, M., Akizu, N., Gleeson, J. G., Grijalvo-Perez, A. M.

المصدر: Brain ; volume 135, issue 8, page 2416-2427 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/aws162
http://academic.oup.com/brain/article-pdf/135/8/2416/868935/aws162.pdf

المؤلفون: Hanna, R. M., Marsh, S. E., Swistun, D., Al-Gazali, L., Zaki, M. S., Abdel-Salam, G. M., Al-Tawari, A., Bastaki, L., Kayserili, H., Rajab, A., Boglarka, B., Dietrich, R. B., Dobyns, W. B., Truwit, C. L., Sattar, S., Chuang, N. A., Sherr, E. H., Gleeson, J. G.

المصدر: NEUROLOGY 76(4) 373-382

Relation: https://aperta.ulakbim.gov.tr/record/19477; oai:zenodo.org:19477

الاتاحة: https://aperta.ulakbim.gov.tr/record/19477

المؤلفون: Moog, U., Kutsche, K., Kortum, F., Chilian, B., Bierhals, T., Apeshiotis, N., Balg, S., Chassaing, N., Coubes, C., Das, S., Engels, H., Van Esch, H., Grasshoff, U., Heise, M., Isidor, B., Jarvis, J., Koehler, U., Martin, T., Oehl-Jaschkowitz, B., Ortibus, E., Pilz, D. T., Prabhakar, P., Rappold, G., Rau, I., Rettenberger, G., Schluter, G., Scott, R. H., Shoukier, M., Wohlleber, E., Zirn, B., Dobyns, W. B., Uyanik, G.

المصدر: Journal of Medical Genetics ; volume 48, issue 11, page 741-751 ; ISSN 0022-2593 1468-6244

الاتاحة: https://doi.org/10.1136/jmedgenet-2011-100218
https://syndication.highwire.org/content/doi/10.1136/jmedgenet-2011-100218

المؤلفون: Waldorf, Kristina M. Adams, Nelson, B. R., Stencel-Baerenwald, J. E., Studholme, C., Kapur, R. P., Armistead, B., Walker, C. L., Merillat, S., Vornhagen, J., Tisoncik-Go, J., Baldessari, A., Coleman, M., Dighe, M. K., Shaw, D. W. W., Roby, J. A., Santana-Ufret, V., Boldenow, E., Li, J. W., Gao, X. H., Davis, M. A., Swanstrom, J. A., Jensen, K., Widman, D. G., Baric, R. S., Medwid, J. T., Hanley, K. A., Ogle, J., Gough, G. M., Lee, W., English, C., Durning, W. M., Thiel, J., Gatenby, C., Dewey, E. C., Fairgrieve, M. R., Hodge, R. D., Grant, R. F., Kuller, L., Dobyns, W. B., Hevner, R. F., Gale, M., Rajagopal, L.

المصدر: Nature Medicine. 24(3):368-374

مصطلحات موضوعية: Neurology, Neurologi, antibody-dependent enhancement, neural stem-cells, dengue virus, adult, brain, progenitors, immunity, vaccine, humans, primate, neurons, Biochemistry & Molecular Biology, Cell Biology, Research & Experimental, Medicine

URL الوصول: https://gup.ub.gu.se/publication/265503

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