المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Allan, TJ, Zalusky, MP-G, Goffena, J, Gibson, SB, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, MN, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Gupta, S, Jones, EA, Weisz-Hubshman, M, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/350134
NHMRC/1172897
NHMRC/2006841
NHMRC/2010562

المؤلفون: Schneider, AL, Köhler, H., Röthlisberger, B., Grobholz, R., McLin, V.A.

المصدر: Clinics and Research in Hepatology and Gastroenterology ; volume 46, issue 3, page 101824 ; ISSN 2210-7401

الاتاحة: http://dx.doi.org/10.1016/j.clinre.2021.101824
https://api.elsevier.com/content/article/PII:S2210740121002023?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2210740121002023?httpAccept=text/plain

المؤلفون: Schneider, Al, Lyon, Peggy, Nesom, Guy

المساهمون: BioStor

المصدر: 2:771-774

URL الوصول: http://www.biodiversitylibrary.org/part/161572

المؤلفون: Stamberger, H, Hammer, TB, Gardella, E, Vlaskamp, DRM, Bertelsen, B, Mandelstam, S, Lange, I, Zhang, J, Myers, CT, Fenger, C, Afawi, Z, Almanza Fuerte, EP, Andrade, DM, Balcik, Y, Ben Zeev, B, Bennett, MF, Berkovic, SF, Isidor, B, Bouman, Arjan, Brilstra, E, Busk, ØL, Cairns, A, Caumes, R, Chatron, N, Dale, RC, de Geus, C, Edery, P, Gill, D, Granild-Jensen, JB, Gunderson, L, Gunning, B, Heimer, G, Helle, JR, Hildebrand, MS, Hollingsworth, G, Kharytonov, V, Klee, EW, Koeleman, BPC, Koolen, DA (David), Korff, C, Küry, S, Lesca, G, Lev, D, Leventer, RJ, Mackay, MT, Macke, EL, McEntagart, M, Mohammad, SS, Monin, P, Montomoli, M, Morava, E, Moutton, S, Muir, AM, Parrini, E, Procopis, P, Ranza, E, Reed, L, Reif, PS, Rosenow, F, Rossi, M, Sadleir, LG, Sadoway, T, Schelhaas, HJ, Schneider, AL, Shah, K, Shalev, R, Sisodiya, SM, Smol, T, Stumpel, Ctrm, Stuurman, Kyra, Symonds, JD, Mau-Them, FT, Verbeek, N, Verhoeven, JS, Wallace, G, Yosovich, K, Zarate, YA, Zerem, A, Zuberi, SM, Guerrini, R, Mefford, HC, Patel, C, Zhang, YH, Møller, RS, Scheffer, IE

المصدر: Stamberger , H , Hammer , TB , Gardella , E , Vlaskamp , DRM , Bertelsen , B , Mandelstam , S , Lange , I , Zhang , J , Myers , CT , Fenger , C , Afawi , Z , Almanza Fuerte , EP , Andrade , DM , Balcik , Y , Ben Zeev , B , Bennett , MF , Berkovic , SF , Isidor , B , Bouman , A , Brilstra , E , Busk , ØL , Cairns , A , Caumes , R , Chatron , N , Dale ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/be1c259f-7c9a-4ffe-8c90-cf355d9e1348
https://doi.org/10.1038/s41436-020-00988-9
http://www.scopus.com/inward/record.url?scp=85094911047&partnerID=8YFLogxK
http://www.gimjournal.org/article/S109836002102548X/pdf

المؤلفون: Li, W, Schneider, AL, Scheffer, IE

Relation: Li, W., Schneider, A. L. & Scheffer, I. E. (2021). Defining Dravet syndrome: An essential pre-requisite for precision medicine trials. EPILEPSIA, 62 (9), pp.2205-2217. https://doi.org/10.1111/epi.17015.; http://hdl.handle.net/11343/289481

الاتاحة: http://hdl.handle.net/11343/289481

المؤلفون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H

المساهمون: Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A, SYNAPS Study Group, Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H

مصطلحات موضوعية: Next-generation sequencing, Synaptic development, Ion channels in the nervous system, Neurodevelopmental disorders

Relation: info:eu-repo/semantics/altIdentifier/pmid/31300657; info:eu-repo/semantics/altIdentifier/wos/WOS:000475295700001; volume:10; firstpage:1; lastpage:16; numberofpages:16; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/10447/402215

الاتاحة: http://hdl.handle.net/10447/402215
https://doi.org/10.1038/s41467-019-10910-w

المؤلفون: LaFlamme, CW, Rastin, C, Sengupta, S, Pennington, HE, Russ-Hall, SJ, Schneider, AL, Bonkowski, ES, Almanza Fuerte, EP, Galey, M, Goffena, J, Gibson, SB, Allan, TJ, Nyaga, DM, Lieffering, N, Hebbar, M, Walker, EV, Darnell, D, Olsen, SR, Kolekar, P, Djekidel, N, Rosikiewicz, W, McConkey, H, Kerkhof, J, Levy, MA, Relator, R, Lev, D, Lerman-Sagie, T, Park, KL, Alders, M, Cappuccio, G, Chatron, N, Demain, L, Genevieve, D, Lesca, G, Roscioli, T, Sanlaville, D, Tedder, ML, Hubshman, MW, Ketkar, S, Dai, H, Worley, KC, Rosenfeld, JA, Chao, H-T, Undiagnosed Diseases Network, Neale, G, Carvill, GL, University of Washington Center for Rare Disease Research, Wang, Z, Berkovic, SF, Sadleir, LG, Miller, DE, Scheffer, IE, Sadikovic, B, Mefford, HC

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/343960
NHMRC/1172897
NHMRC/2010562

المؤلفون: Corbett, MA, Kroes, T, Veneziano, L, Bennett, MF, Florian, R, Schneider, AL, Coppola, A, Licchetta, L, Franceschetti, S, Suppa, A, Wenger, A, Mei, D, Pendziwiat, M, Kaya, S, Delledonne, M, Straussberg, R, Xumerle, L, Regan, B, Crompton, D, van Rootselaar, A-F, Correll, A, Catford, R, Bisulli, F, Chakraborty, S, Baldassari, S, Tinuper, P, Barton, K, Carswell, S, Smith, M, Berardelli, A, Carroll, R, Gardner, A, Friend, KL, Blatt, I, Iacomino, M, Di Bonaventura, C, Striano, S, Buratti, J, Keren, B, Nava, C, Forlani, S, Rudolf, G, Hirsch, E, Leguern, E, Labauge, P, Balestrini, S, Sander, JW, Afawi, Z, Helbig, I, Ishiura, H, Tsuji, S, Sisodiya, SM, Casari, G, Sadleir, LG, van Coller, R, Tijssen, MAJ, Klein, KM, van den Maagdenberg, AMJM, Zara, F, Guerrini, R, Berkovic, SF, Pippucci, T, Canafoglia, L, Bahlo, M, Striano, P, Scheffer, IE, Brancati, F, Depienne, C, Gecz, J

Relation: NHMRC/628952; pii: 10.1038/s41467-019-12671-y; Corbett, M. A., Kroes, T., Veneziano, L., Bennett, M. F., Florian, R., Schneider, A. L., Coppola, A., Licchetta, L., Franceschetti, S., Suppa, A., Wenger, A., Mei, D., Pendziwiat, M., Kaya, S., Delledonne, M., Straussberg, R., Xumerle, L., Regan, B., Crompton, D. ,. Gecz, J. (2019). Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12671-y.; http://hdl.handle.net/11343/245206

الاتاحة: http://hdl.handle.net/11343/245206

المؤلفون: Salpietro, V, Dixon, CL, Guo, H, Bello, OD, Vandrovcova, J, Efthymiou, S, Maroofian, R, Heimer, G, Burglen, L, Valence, S, Torti, E, Hacke, M, Rankin, J, Tariq, H, Colin, E, Procaccio, V, Striano, P, Mankad, K, Lieb, A, Chen, S, Pisani, L, Bettencourt, C, Mannikko, R, Manole, A, Brusco, A, Grosso, E, Ferrero, GB, Armstrong-Moron, J, Gueden, S, Bar-Yosef, O, Tzadok, M, Monaghan, KG, Santiago-Sim, T, Person, RE, Cho, MT, Willaert, R, Yoo, Y, Chae, J-H, Quan, Y, Wu, H, Wang, T, Bernier, RA, Xia, K, Blesson, A, Jain, M, Motazacker, MM, Jaeger, B, Schneider, AL, Boysen, K, Muir, AM, Myers, CT, Gavrilova, RH, Gunderson, L, Schultz-Rogers, L, Klee, EW, Dyment, D, Osmond, M, Parellada, M, Llorente, C, Gonzalez-Penas, J, Carracedo, A, Van Haeringen, A, Ruivenkamp, C, Nava, C, Heron, D, Nardello, R, Iacomino, M, Minetti, C, Skabar, A, Fabretto, A, Chez, M, Tsai, A, Fassi, E, Shinawi, M, Constantino, JN, De Zorzi, R, Fortuna, S, Kok, F, Keren, B, Bonneau, D, Choi, M, Benzeev, B, Zara, F, Mefford, HC, Scheffer, IE, Clayton-Smith, J, Macaya, A, Rothman, JE, Eichler, EE, Kullmann, DM, Houlden, H, Raspall-Chaure, M, Hanna, MG, Bugiardini, E, Hostettler, I, O'Callaghan, B, Khan, A, Cortese, A, O'Connor, E, Yau, WY, Bourinaris, T, Kaiyrzhanov, R, Chelban, V, Madej, M, Diana, MC, Vari, MS, Pedemonte, M, Bruno, C, Balagura, G, Scala, M, Fiorillo, C, Nobili, L, Malintan, NT, Zanetti, MN, Krishnakumar, SS, Lignani, G, Jepson, JEC, Broda, P, Baldassari, S, Rossi, P, Fruscione, F, Madia, F, Traverso, M, De-Marco, P, Perez-Duenas, B, Munell, F, Kriouile, Y, El-Khorassani, M, Karashova, B, Avdjieva, D, Kathom, H, Tincheva, R, Van-Maldergem, L, Nachbauer, W, Boesch, S, Gagliano, A, Amadori, E, Goraya, JS, Sultan, T, Kirmani, S, Ibrahim, S, Jan, F, Mine, J, Banu, S, Veggiotti, P, Zuccotti, G, Ferrari, MD, Van Den Maagdenberg, AMJ, Verrotti, A, Marseglia, GL, Savasta, S, Soler, MA, Scuderi, C, Borgione, E, Chimenz, R, Gitto, E, Dipasquale, V, Sallemi, A, Fusco, M, Cuppari, C, Cutrupi, MC, Ruggieri, M, Cama, A, Capra, V, Mencacci, NE, Boles, R, Gupta, N, Kabra, M, Papacostas, S, Zamba-Papanicolaou, E, Dardiotis, E, Maqbool, S, Rana, N, Atawneh, O, Lim, SY, Shaikh, F, Koutsis, G, Breza, M, Coviello, DA, Dauvilliers, YA, AlKhawaja, I, AlKhawaja, M, Al-Mutairi, F, Stojkovic, T, Ferrucci, V, Zollo, M, Alkuraya, FS, Kinali, M, Sherifa, H, Benrhouma, H, Turki, IBY, Tazir, M, Obeid, M, Bakhtadze, S, Saadi, NW, Zaki, MS, Triki, CC, Benfenati, F, Gustincich, S, Kara, M, Belcastro, V, Specchio, N, Capovilla, G, Karimiani, EG, Salih, AM, Okubadejo, NU, Ojo, OO, Oshinaike, OO, Oguntunde, O, Wahab, K, Bello, AH, Abubakar, S, Obiabo, Y, Nwazor, E, Ekenze, O, Williams, U, Iyagba, A, Taiwo, L, Komolafe, M, Senkevich, K, Shashkin, C, Zharkynbekova, N, Koneyev, K, Manizha, G, Isrofilov, M, Guliyeva, U, Salayev, K, Khachatryan, S, Rossi, S, Silvestri, G, Haridy, N, Ramenghi, LA, Xiromerisiou, G, David, E, Aguennouz, M, Fidani, L, Spanaki, C, Tucci, A

Relation: pii: 10.1038/s41467-019-10910-w; Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcova, J., Efthymiou, S., Maroofian, R., Heimer, G., Burglen, L., Valence, S., Torti, E., Hacke, M., Rankin, J., Tariq, H., Colin, E., Procaccio, V., Striano, P., Mankad, K., Lieb, A. ,. Tucci, A. (2019). AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-10910-w.; http://hdl.handle.net/11343/246204

الاتاحة: http://hdl.handle.net/11343/246204

المؤلفون: Gorman, KM, Meyer, E, Grozeva, D, Spinelli, E, McTague, A, Sanchis-Juan, A, Carss, KJ, Bryant, E, Reich, A, Schneider, AL, Pressler, RM, Simpson, MA, Debelle, GD, Wassmer, E, Morton, J, Sieciechowicz, D, Jan-Kamsteeg, E, Paciorkowski, AR, King, MD, Cross, JH, Poduri, A, Mefford, HC, Scheffer, IE, Haack, TB, McCullagh, G, Study, Deciphering Developmental Disorders, Consortium, UK10K, BioResource, NIHR, Rue-Albrecht, K, Millichap, JJ, Carvill, GL, Clayton-Smith, J, Maher, ER, Raymond, FL, Kurian, MA

Relation: https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9c; https://doi.org/10.1016/j.ajhg.2019.03.005

الاتاحة: https://doi.org/10.1016/j.ajhg.2019.03.005
https://ora.ox.ac.uk/objects/uuid:0310fd5b-6c95-4b64-a440-1db87535ed9c

المؤلفون: Muir, AM, King, C, Schneider, AL, Buttar, AS, Scheffer, IE, Sadleir, LG, Mefford, HC

Relation: pii: NG2019009977; Muir, A. M., King, C., Schneider, A. L., Buttar, A. S., Scheffer, I. E., Sadleir, L. G. & Mefford, H. C. (2019). Double somatic mosaicism in a child with Dravet syndrome. NEUROLOGY-GENETICS, 5 (3), https://doi.org/10.1212/NXG.0000000000000333.; http://hdl.handle.net/11343/251211

الاتاحة: http://hdl.handle.net/11343/251211

المؤلفون: Stephenson, SEM, Costain, G, Blok, LER, Silk, MA, Nguyen, TB, Dong, X, Alhuzaimi, DE, Dowling, JJ, Walker, S, Amburgey, K, Hayeems, RZ, Rodan, LH, Schwartz, MA, Picker, J, Lynch, SA, Gupta, A, Rasmussen, KJ, Schimmenti, LA, Klee, EW, Niu, Z, Agre, KE, Chilton, I, Chung, WK, Revah-Politi, A, Au, PYB, Griffith, C, Racobaldo, M, Raas-Rothschild, A, Ben Zeev, B, Barel, O, Moutton, S, Morice-Picard, F, Carmignac, V, Cornaton, J, Marle, N, Devinsky, O, Stimach, C, Wechsler, SB, Hainline, BE, Sapp, K, Willems, M, Bruel, A, Dias, K-R, Evans, C-A, Roscioli, T, Sachdev, R, Temple, SEL, Zhu, Y, Baker, JJ, Scheffer, IE, Gardiner, FJ, Schneider, AL, Muir, AM, Mefford, HC, Crunk, A, Heise, EM, Millan, F, Monaghan, KG, Person, R, Rhodes, L, Richards, S, Wentzensen, IM, Cogne, B, Isidor, B, Nizon, M, Vincent, M, Besnard, T, Piton, A, Marcelis, C, Kato, K, Koyama, N, Ogi, T, Goh, ES-Y, Richmond, C, Amor, DJ, Boyce, JO, Morgan, AT, Hildebrand, MS, Kaspi, A, Bahlo, M, Fridriksdottir, R, Katrinardottir, H, Sulem, P, Stefansson, K, Bjornsson, HT, Mandelstam, S, Morleo, M, Mariani, M, Scala, M, Accogli, A, Torella, A, Capra, V, Wallis, M, Jansen, S, Waisfisz, Q, de Haan, H, Sadedin, S, Lim, SC, White, SM, Ascher, DB, Schenck, A, Lockhart, PJ, Christodoulou, J, Tan, TY

Relation: pii: S0002-9297(22)00098-2; Stephenson, S. E. M., Costain, G., Blok, L. E. R., Silk, M. A., Nguyen, T. B., Dong, X., Alhuzaimi, D. E., Dowling, J. J., Walker, S., Amburgey, K., Hayeems, R. Z., Rodan, L. H., Schwartz, M. A., Picker, J., Lynch, S. A., Gupta, A., Rasmussen, K. J., Schimmenti, L. A., Klee, E. W. ,. Tan, T. Y. (2022). Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. AMERICAN JOURNAL OF HUMAN GENETICS, 109 (4), pp.601-617. https://doi.org/10.1016/j.ajhg.2022.03.002.; http://hdl.handle.net/11343/316396

الاتاحة: http://hdl.handle.net/11343/316396

المؤلفون: Brunklaus, A, Perez-Palma, E, Ghanty, I, Xinge, J, Brilstra, E, Ceulemans, B, Chemaly, N, de Lange, I, Depienne, C, Guerrini, R, Mei, D, Moller, RS, Nabbout, R, Regan, BM, Schneider, AL, Scheffer, IE, Schoonjans, A-S, Symonds, JD, Weckhuysen, S, Kattan, MW, Zuberi, SM, Lal, D

Relation: pii: WNL.0000000000200028; Brunklaus, A., Perez-Palma, E., Ghanty, I., Xinge, J., Brilstra, E., Ceulemans, B., Chemaly, N., de Lange, I., Depienne, C., Guerrini, R., Mei, D., Moller, R. S., Nabbout, R., Regan, B. M., Schneider, A. L., Scheffer, I. E., Schoonjans, A. -S., Symonds, J. D., Weckhuysen, S. ,. Lal, D. (2022). Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies. NEUROLOGY, 98 (11), pp.E1163-E1174. https://doi.org/10.1212/WNL.0000000000200028.; http://hdl.handle.net/11343/316400

الاتاحة: http://hdl.handle.net/11343/316400

المؤلفون: Giroux, Dalie, Chouinard-Poirier, Sarah, schneider, al, Robert, Jocelyn, Wren, Jacob, Letourneau, André Eric

URL: http://worldcat.org/search?q=on:CAXTE+http://e-artexte.ca/cgi/oai2+DCG_ENTIRE_REPOSITORY+CNTCOLL
https://e-artexte.ca/id/eprint/34550/
https://e-artexte.ca/id/eprint/34550

المؤلفون: Galizia, EC, Myers, CT, Leu, C, de Kovel, CGF, Afrikanova, T, Cordero-Maldonado, ML, Martins, TG, Jacmin, M, Drury, S, Chinthapalli, VK, Muhle, H, Pendziwiat, M, Sander, T, Ruppert, A-K, Moller, RS, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nuernberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Del Gaudio, L, Boustred, C, Schneider, AL, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M, Parisi, P, Cantonetti, L, Sadleir, LG, Mullen, SA, Berkovic, SF, Stephani, U, Helbig, I, Crawford, AD, Esguerra, CV, Trenite, DGAK-N, Koeleman, BPC, Mefford, HC, Scheffer, IE, Sisodiya, SM

Relation: pii: awv052; Galizia, E. C., Myers, C. T., Leu, C., de Kovel, C. G. F., Afrikanova, T., Cordero-Maldonado, M. L., Martins, T. G., Jacmin, M., Drury, S., Chinthapalli, V. K., Muhle, H., Pendziwiat, M., Sander, T., Ruppert, A. -K., Moller, R. S., Thiele, H., Krause, R., Schubert, J., Lehesjoki, A. -E. ,. Sisodiya, S. M. (2015). CHD2 variants are a risk factor for photosensitivity in epilepsy. BRAIN, 138 (Pt 5), pp.1198-1207. https://doi.org/10.1093/brain/awv052.; http://hdl.handle.net/11343/263697

الاتاحة: http://hdl.handle.net/11343/263697

المؤلفون: Carvill, GL, Crompton, DE, Regan, BM, McMahon, JM, Saykally, J, Zemel, M, Schneider, AL, Dibbens, L, Howell, KB, Mandelstam, S, Leventer, RJ, Harvey, AS, Mullen, SA, Berkovic, SF, Sullivan, J, Scheffer, IE, Mefford, HC

Relation: pii: NG2015000240; Carvill, G. L., Crompton, D. E., Regan, B. M., McMahon, J. M., Saykally, J., Zemel, M., Schneider, A. L., Dibbens, L., Howell, K. B., Mandelstam, S., Leventer, R. J., Harvey, A. S., Mullen, S. A., Berkovic, S. F., Sullivan, J., Scheffer, I. E. & Mefford, H. C. (2015). Epileptic spasms are a feature of DEPDC5 mTORopathy. NEUROLOGY-GENETICS, 1 (2), https://doi.org/10.1212/NXG.0000000000000016.; http://hdl.handle.net/11343/258994

الاتاحة: http://hdl.handle.net/11343/258994

المؤلفون: Howell, KB, Freeman, JL, Mackay, MT, Fahey, MC, Archer, J, Berkovic, SF, Chan, E, Dabscheck, G, Eggers, S, Hayman, M, Holberton, J, Hunt, RW, Jacobs, SE, Kornberg, AJ, Leventer, RJ, Mandelstam, S, McMahon, JM, Mefford, HC, Panetta, J, Riseley, J, Rodriguez-Casero, V, Ryan, MM, Schneider, AL, Smith, LJ, Stark, Z, Wong, F, Yiu, EM, Scheffer, IE, Harvey, AS

Relation: Howell, K. B., Freeman, J. L., Mackay, M. T., Fahey, M. C., Archer, J., Berkovic, S. F., Chan, E., Dabscheck, G., Eggers, S., Hayman, M., Holberton, J., Hunt, R. W., Jacobs, S. E., Kornberg, A. J., Leventer, R. J., Mandelstam, S., McMahon, J. M., Mefford, H. C., Panetta, J. ,. Harvey, A. S. (2021). The severe epilepsy syndromes of infancy: A population-based study. EPILEPSIA, 62 (2), pp.358-370. https://doi.org/10.1111/epi.16810.; http://hdl.handle.net/11343/278756

الاتاحة: http://hdl.handle.net/11343/278756

المؤلفون: Schneider, AL, Myers, CT, Muir, AM, Calvert, S, Basinger, A, Perry, MS, Rodan, L, Helbig, KL, Chambers, C, Gorman, KM, King, MD, Donkervoort, S, Soldatos, A, Bonnemann, CG, Spataro, N, Gabau, E, Arellano, M, Cappuccio, G, Brunetti-Pierri, N, Rossignol, E, Hamdan, FF, Michaud, JL, Balak, C, Mefford, HC, Scheffer, IE

مصطلحات الفهرس: Journal Article

URL: http://hdl.handle.net/11343/276706

المؤلفون: Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M, Lapunzina, P, Herberg, FW, Taylor, SS, Ruiz-Perez, VL

مصطلحات موضوعية: Ellis-van Creveld syndrome, GLI transcritpion factors, PKA, PRKACA, PRKACB, cAMP signaling, congenital heart defects, hedgehog signaling, mosaicism, postaxial polydactyly

Relation: Palencia-Campos, A, Aoto, PC, Machal, EMF, Rivera-Barahona, A, Soto-Bielicka, P, Bertinetti, D, Baker, B, Vu, L, Piceci-Sparascio, F, Torrente, I, Boudin, E, Peeters, S, Van Hul, W, Huber, C, Bonneau, D, Hildebrand, MS, Coleman, M, Bahlo, M, Bennett, MF, Schneider, AL, Scheffer, IE, Kibaek, M, Kristiansen, BS, Issa, MY, Mehrez, MI, Ismail, S, Tenorio, J, Li, G, Skalhegg, BS, Otaify, GA, Temtamy, S, Aglan, M, Jonch, AE, De Luca, A, Mortier, G, Cormier-Daire, V, Ziegler, A, Wallis, M orcid:0000-0002-5441-1732 , Lapunzina, P, Herberg, FW, Taylor, SS and Ruiz-Perez, VL 2020 , 'Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome' , American Journal of Human Genetics, vol. 107, no. 5 , pp. 977-988 , doi: https://doi.org/10.1016/j.ajhg.2020.09.005 .

الاتاحة: https://eprints.utas.edu.au/37673/