المؤلفون: O'Donnell-Luria, AH, Pais, LS, Faundes, V, Wood, JC, Sveden, A, Luria, V, Abou Jamra, R, Accogli, A, Amburgey, K, Anderlid, BM, Azzarello-Burri, S, Basinger, AA, Bianchini, C, Bird, LM, Buchert, R, Carre, W, Ceulemans, S, Charles, P, Cox, H, Culliton, L, Curro, A, Demurger, F, Dowling, JJ, Duban-Bedu, B, Dubourg, C, Eiset, SE, Escobar, LF, Ferrarini, A, Haack, TB, Hashim, M, Heide, S, Helbig, KL, Helbig, I, Heredia, R, Heron, D, Isidor, B, Jonasson, AR, Joset, P, Keren, B, Kok, F, Kroes, HY, Lavillaureix, A, Lu, X, Maas, SM, Maegawa, GHB, Marcelis, CLM, Mark, PR, Masruha, MR, McLaughlin, HM, McWalter, K, Melchinger, EU, Mercimek-Andrews, S, Nava, C, Pendziwiat, M, Person, R, Ramelli, GP, Ramos, LLP, Rauch, A, Reavey, C, Renieri, A, Riess, A, Sanchez-Valle, A, Sattar, S, Saunders, C, Schwarz, N, Smol, T, Srour, M, Steindl, K, Syrbe, S, Taylor, JC, Telegrafi, A, Thiffault, I, Trauner, DA, van der Linden, H, van Koningsbruggen, S, Villard, L, Vogel, I, Vogt, J, Weber, YG, Wentzensen, IM, Widjaja, E, Zak, J, Baxter, S, Banka, S, Rodan, LH, Mcrae, JF, Clayton, S, Fitzgerald, TW, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge, K, Barrett, DM, Bayzetinova, T, Jones, P, Jones, WD, King, D, Krishnappa, N, Mason, LE, Singh, T, Tivey, AR, Ahmed, M, Anjum, U, Archer, H, Armstrong, R, Awada, J, Balasubramanian, M, Baralle, D, Barnicoat, A, Batstone, P, Baty, D, Bennett, C, Berg, J, Bernhard, B, Bevan, AP, Bitner-Glindzicz, M, Blair, E, Blyth, M, Bohanna, D, Bourdon, L, Bourn, D, Bradley, L, Brady, A, Brent, S, Brewer, C, Brunstrom, K, Bunyan, DJ, Burn, J, Canham, N, Castle, B, Chandler, K, Chatzimichali, E, Cilliers, D, Clarke, A, Clasper, S, Clayton-Smith, J, Clowes, V, Coates, A, Cole, T, Colgiu, I, Collins, A, Collinson, MN, Connell, F, Cooper, N, Cresswell, L, Cross, G, Crow, Y, D'Alessandro, M, Dabir, T, Davidson, R, Davies, S, de Vries, D, Dean, J, Deshpande, C, Devlin, G, Dixit, A, Dobbie, A, Donaldson, A, Donnai, D, Donnelly, D, Donnelly, C, Douglas, A, Douzgou, S, Duncan, A, Eason, J, Ellard, S, Ellis, I, Elmslie, F, Evans, K, Everest, S, Fendick, T, Fisher, R, Flinter, F, Foulds, N, Fry, A, Fryer, A, Gardiner, C, Gaunt, L, Ghali, N, Gibbons, R, Gill, H, Goodship, J, Goudie, D, Gray, E, Green, A, Greene, P, Greenhalgh, L, Gribble, S, Harrison, R, Harrison, L, Harrison, V, Hawkins, R, He, L, Hellens, S, Henderson, A, Hewitt, S, Hildyard, L, Hobson, E, Holden, S, Holder, M, Holder, S, Hollingsworth, G, Homfray, T, Humphreys, M, Hurst, J, Hutton, B, Ingram, S, Irving, M, Islam, L, Jackson, A, Jarvis, J, Jenkins, L, Johnson, D, Jones, E, Josifova, D, Joss, S, Kaemba, B, Kazembe, S, Kelsell, R, Kerr, B, Kingston, H, Kini, U, Kinning, E, Kirby, G, Kirk, C, Kivuva, E, Kraus, A, Kumar, D, Kumar, VKA, Lachlan, K, Lam, W, Lampe, A, Langman, C, Lees, M, Lim, D, Longman, C, Lowther, G, Lynch, SA, Magee, A, Maher, E, Male, A, Mansour, S, Marks, K, Martin, K, Maye, U, McCann, E, McConnell, V, McEntagart, M, McGowan, R, Mckay, K, Mckee, S, McMullan, DJ, McNerlan, S, McWilliam, C, Mehta, S, Metcalfe, K, Middleton, A, Miedzybrodzka, Z, Miles, E, Mohammed, S, Montgomery, T, Moore, D, Morgan, S, Morton, J, Mugalaasi, H, Murday, V, Murphy, H, Naik, S, Nemeth, A, Nevitt, L, Newbury-Ecob, R, Norman, A, O'Shea, R, Ogilvie, C, Ong, KR, Park, SM, Parker, MJ, Patel, C, Paterson, J, Payne, S, Perrett, D, Phipps, J, Pilz, DT, Pollard, M, Pottinger, C, Poulton, J, Pratt, N, Prescott, K, Price, S, Pridham, A, Procter, A, Purnell, H, Quarrell, O, Ragge, N, Rahbari, R, Randall, J, Rankin, J, Raymond, L, Rice, D, Robert, L, Roberts, E, Roberts, J, Roberts, P, Roberts, G, Ross, A, Rosser, E, Saggar, A, Samant, S, Sampson, J, Sandford, R, Sarkar, A, Schweiger, S, Scott, R, Scurr, I, Selby, A, Seller, A, Sequeira, C, Shannon, N, Sharif, S, Shaw-Smith, C, Shearing, E, Shears, D, Sheridan, E, Simonic, I, Singzon, R, Skitt, Z, Smith, A, Smith, K, Smithson, S, Sneddon, L, Splitt, M, Squires, M, Stewart, F, Stewart, H, Straub, V, Suri, M, Sutton, V, Swaminathan, GJ, Sweeney, E, Tatton-Brown, K, Taylor, C, Taylor, R, Tein, M, Temple, IK, Thomson, J, Tischkowitz, M, Tomkins, S, Torokwa, A, Treacy, B, Turner, C, Turnpenny, P, Tysoe, C, Vandersteen, A, Varghese, V, Vasudevan, P, Vijayarangakannan, P, Wakeling, E, Wallwark, S, Waters, J, Weber, A, Wellesley, D, Whiteford, M, Widaa, S, Wilcox, S, Wilkinson, E, Williams, D, Williams, N, Wilson, L, Woods, G, Wragg, C, Wright, M, Yates, L, Yau, M, Nellaker, C, Parker, M, Firth, HV, Wright, CF, FitzPatrick, DR, Barrett, JC, Hurles, ME

المصدر: American journal of human genetics. 104(6):1210-1222

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079

المؤلفون: Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R

المصدر: Brain : a journal of neurology. 142(11)

مصطلحات موضوعية: Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery

URL الوصول: https://escholarship.org/uc/item/3hj2q3k2

المؤلفون: Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B., Yigit, G.

مصطلحات موضوعية: Technology Platforms, Topic 1: Genes, Cells and Cell-Based Medicine

وصف الملف: application/pdf

Relation: https://edoc.mdc-berlin.de/id/eprint/23222/1/23222oa.pdf; Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenita with microcephaly. Schnabel, F., Schuler, E., Al-Maawali, A., Chaurasia, A., Syrbe, S., Al-Kindi, A., Bhavani, G.S., Shukla, A., Altmüller, J., Nürnberg, P., Banka, S., Girisha, K.M., Li, Y., Wollnik, B. and Yigit, G. Human Genetics 142 (4): 543-552. April 2023; PMID:36943452; https://doi.org/10.1007/s00439-023-02528-2

الاتاحة: https://edoc.mdc-berlin.de/id/eprint/23222/
https://edoc.mdc-berlin.de/23222/
https://doi.org/10.1007/s00439-023-02528-2

المؤلفون: Driedger, J. H., Saffari, A., Schroter, J., Hoffmann, G. F., Syrbe, S.

المصدر: Zeitschrift für Geburtshilfe und Neonatologie ; 21. Kongress Deutsche Gesellschaft für Pränatal- und Geburtsmedizin e. V. (DGPGM) ; ISSN 1439-1651

الاتاحة: http://dx.doi.org/10.1055/s-0044-1786649
http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0044-1786649

المؤلفون: Brunklaus, A, Bruenger, T, Feng, T, Fons, C, Lehikoinen, A, Panagiotakaki, E, Vintan, M-A, Symonds, J, Andrew, J, Arzimanoglou, A, Delima, S, Gallois, J, Hanrahan, D, Lesca, G, MacLeod, S, Marjanovic, D, McTague, A, Nunez-Enamorado, N, Perez-Palma, E, Scott Perry, M, Pysden, K, Russ-Hall, SJ, Scheffer, IE, Sully, K, Syrbe, S, Vaher, U, Velayutham, M, Vogt, J, Weiss, S, Wirrell, E, Zuberi, SM, Lal, D, Moller, RS, Mantegazza, M, Cestele, S

Relation: pii: 6606157; Brunklaus, A., Bruenger, T., Feng, T., Fons, C., Lehikoinen, A., Panagiotakaki, E., Vintan, M. -A., Symonds, J., Andrew, J., Arzimanoglou, A., Delima, S., Gallois, J., Hanrahan, D., Lesca, G., MacLeod, S., Marjanovic, D., McTague, A., Nunez-Enamorado, N., Perez-Palma, E. ,. Cestele, S. (2022). The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. BRAIN, 145 (11), pp.3816-3831. https://doi.org/10.1093/brain/awac210.; http://hdl.handle.net/11343/316392

الاتاحة: http://hdl.handle.net/11343/316392

المؤلفون: Wortmann, S.B., Feichtinger, R.G., Abela, L., Gemert, L.A. van, Aubart, M., Dufeu-Berat, C.M., Boddaert, N., Coo, R. de, Stühn, L., Hebbink, J., Heinritz, W., Hildebrandt, J., Himmelreich, N., Korenke, C., Lehman, A., Leyland, T., Makowski, C., Marin, R.J. Martinez, Marzin, P., Mühlhausen, C., Rio, M., Rotig, A., Roux, C.J., Schiff, M., Haack, T.B., Syrbe, S., Zylicz, S.A., Thiel, C, Cunha, M. Veiga da, Schaftingen, E. van, Wagner, M., Mayr, J.A., Wevers, R.A., Boltshauser, E., Willemsen, M.A.

المصدر: Neurology. Genetics, 10, 2, pp. e200146

مصطلحات موضوعية: Human Genetics - Radboud University Medical Center - DCMN, Paediatrics - Radboud University Medical Center, Paediatrics - Radboud University Medical Center - DCMN

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/307961/307961.pdf; https://hdl.handle.net/2066/307961

الاتاحة: https://hdl.handle.net/2066/307961
https://repository.ubn.ru.nl//bitstream/handle/2066/307961/307961.pdf
https://doi.org/10.1212/NXG.0000000000200146

المؤلفون: Schnabel, F, Schuler, E, Al-Maawali, A, Chaurasia, A, Syrbe, S, Al-Kindi, A, Bhavani, GSL, Shukla, A, Altmüller, J, Nürnberg, P, Banka, S, Girisha, K, Li, Y, Wollnik, B, Yigit, G

المصدر: Schnabel , F , Schuler , E , Al-Maawali , A , Chaurasia , A , Syrbe , S , Al-Kindi , A , Bhavani , GSL , Shukla , A , Altmüller , J , Nürnberg , P , Banka , S , Girisha , K , Li , Y , Wollnik , B & Yigit , G 2024 , ' Bi-allelic loss-of-function variants of FILIP1 encoding a filamin A binding protein cause autosomal recessive arthrogryposis multiplex congenita with microcephaly ' , European Journal of Human Genetics , vol. 32 , pp. 520-520 .

Relation: https://research.manchester.ac.uk/en/publications/2bfb7586-373c-4749-8ead-8a915b4815f0

الاتاحة: https://research.manchester.ac.uk/en/publications/2bfb7586-373c-4749-8ead-8a915b4815f0
https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=pure_starter&SrcAuth=WosAPI&KeyUT=WOS:001147414902452&DestLinkType=FullRecord&DestApp=WOS_CPL

المؤلفون: Vetro, A, Nielsen, HN, Holm, R, Hevner, RF, Parrini, E, Powis, Z, Moller, RS, Bellan, C, Simonati, A, Lesca, G, Helbig, KL, Palmer, EE, Mei, D, Ballardini, E, Van Haeringen, A, Syrbe, S, Leuzzi, V, Cioni, G, Curry, CJ, Costain, G, Santucci, M, Chong, K, Mancini, GMS, Clayton-Smith, J, Bigoni, S, Scheffer, IE, Dobyns, WB, Vilsen, B, Guerrini, R

Relation: NHMRC/1091593; NHMRC/1104831; pii: 6242725; Vetro, A., Nielsen, H. N., Holm, R., Hevner, R. F., Parrini, E., Powis, Z., Moller, R. S., Bellan, C., Simonati, A., Lesca, G., Helbig, K. L., Palmer, E. E., Mei, D., Ballardini, E., Van Haeringen, A., Syrbe, S., Leuzzi, V., Cioni, G., Curry, C. J. ,. Guerrini, R. (2021). ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. BRAIN, 144 (5), pp.1435-1450. https://doi.org/10.1093/brain/awab052.; http://hdl.handle.net/11343/307672

الاتاحة: http://hdl.handle.net/11343/307672

المؤلفون: Dworschak, GC, Punetha, J, Kalanithy, JC, Mingardo, E, Erdem, HB, Akdemir, ZC, Karaca, E, Mitani, T, Marafi, D, Fatih, JM, Jhangiani, SN, Hunter, JV, Dakal, TC, Dhabhai, B, Dabbagh, O, Alsaif, HS, Alkuraya, FS, Maroofian, R, Houlden, H, Efthymiou, S, Dominik, N, Salpietro, V, Sultan, T, Haider, S, Bibi, F, Thiele, H, Hoefele, J, Riedhammer, KM, Wagner, M, Guella, I, Demos, M, Keren, B, Buratti, J, Charles, P, Nava, C, Heron, D, Heide, S, Valkanas, E, Waddell, LB, Jones, KJ, Oates, EC, Cooper, ST, MacArthur, D, Syrbe, S, Ziegler, A, Platzer, K, Okur, V, Chung, WK, O'Shea, SA, Alcalay, R, Fahn, S, Mark, PR, Guerrini, R, Vetro, A, Hudson, B, Schnur, RE, Hoganson, GE, Burton, JE, McEntagart, M, Lindenberg, T, Yilmaz, O, Odermatt, B, Pehlivan, D, Posey, JE, Lupski, JR, Reutter, H

المصدر: Genetics in Medicine (2021)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdf; https://discovery.ucl.ac.uk/id/eprint/10129773/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10129773/1/s41436-021-01196-9.pdf
https://discovery.ucl.ac.uk/id/eprint/10129773/

المؤلفون: Lessel, D., Zeitler, D.M., Reijnders, M.R.F., Kazantsev, A., Nia, F.H., Bartholomaus, A., Martens, V., Bruckmann, A., Graus, V., McConkie-Rosell, A., McDonald, M., Lozic, B., Tan, E.S., Gerkes, E., Johannsen, J., Denecke, J., Telegrafi, A., Zonneveld-Huijssoon, E., Lemmink, H.H., Cham, B.W.M., Kovacevic, T., Ramsdell, L., Foss, K., Le Duc, D., Mitter, D., Syrbe, S., Merkenschlager, A., Sinnema, M., Panis, B., Lazier, J., Osmond, M., Hartley, T., Mortreux, J., Busa, T., Missirian, C., Prasun, P., Luttgen, S., Mannucci, I., Lessel, I., Schob, C., Kindler, S., Pappas, J., Rabin, R., Willemsen, M., Gardeitchik, T., Lohner, K., Rump, P., Dias, K.R., Evans, C.A., Andrews, P.I., Kreienkamp, Hans-Jurgen

المصدر: Lessel , D , Zeitler , D M , Reijnders , M R F , Kazantsev , A , Nia , F H , Bartholomaus , A , Martens , V , Bruckmann , A , Graus , V , McConkie-Rosell , A , McDonald , M , Lozic , B , Tan , E S , Gerkes , E , Johannsen , J , Denecke , J , Telegrafi , A , Zonneveld-Huijssoon , E , Lemmink , H H , Cham , B W M , Kovacevic , T , Ramsdell , L , Foss , K ....

مصطلحات موضوعية: argonaute proteins, cleavage, crystal-structure, gene, intellectual disability, micrornas, molecular-dynamics, phosphorylation, recognition, structural basis

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/190a7367-7681-48c6-8a8c-2241661bfe79
https://doi.org/10.1038/s41467-020-19572-5

المؤلفون: Barba, C, Cross, JH, Braun, K, Cossu, M, Klotz, KA, De Masi, S, Perez Jimenez, MA, Gaily, E, Specchio, N, Cabral, P, Toulouse, J, Dimova, P, Battaglia, D, Freri, E, Consales, A, Cesaroni, E, Tarta-Arsene, O, Gil-Nagel, A, Mindruta, I, Di Gennaro, G, Giulioni, M, Tisdall, MM, Eltze, C, Tahir, MZ, Jansen, F, van Rijen, P, Sanders, M, Tassi, L, Francione, S, Lo Russo, G, Jacobs, J, Bast, T, Matta, G, Budke, M, Fournier del Castillo, C, Metsahonkala, E-L, Karppinen, A, Ferreira, JC, Minkin, K, Marras, CE, Arzimanoglou, A, Guerrini, R, Jacques, T, Varadkar, S, Colon, A, D'Orio, P, Pelliccia, V, Schulze-Bonhage, A, Syrbe, S, Buccoliero, A, Giordano, F, Garcia-Fernandez, M, Villarejo, F, De Palma, L, Pavia, GC, Canas, NM, Santos, A, Montavont, A, Ostrowsky-Coste, K, Gabrovski, K, Stoyanova, D, Tamburrini, G, Granata, T, Pacetti, M, Matricardi, S, Craiu, D, Aledo, A, Popa, I, Esposito, V, Lucenteforte, E

المصدر: Epilepsia , 61 (2) pp. 216-227. (2020)

مصطلحات موضوعية: children, epilepsy surgery, histopathology, outcome, survey

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10088847/30/Cross_Trends%20in%20pediatric%20epilepsy%20surgery%20in%20Europe%20between%202008%20and%202015.%20Country-,%20center-,%20and%20age-specific%20variation_AAM2.pdf; https://discovery.ucl.ac.uk/id/eprint/10088847/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10088847/30/Cross_Trends%20in%20pediatric%20epilepsy%20surgery%20in%20Europe%20between%202008%20and%202015.%20Country-,%20center-,%20and%20age-specific%20variation_AAM2.pdf
https://discovery.ucl.ac.uk/id/eprint/10088847/

المؤلفون: Jarius, S., Lechner, C., Wendel, E.M., Baumann, M., Breu, M., Schimmel, M., Karenfort, M., Marina, A.D., Merkenschlager, A., Thiels, C., Blaschek, A., Salandin, M., Leiz, S., Leypoldt, F., Pschibul, A., Hackenberg, A., Hahn, A., Syrbe, S., Strautmanis, J., Häusler, M., Krieg, P., Eisenkölbl, A., Stoffels, J., Eckenweiler, M., Ayzenberg, I., Haas, J., Höftberger, R., Kleiter, I., Korporal-Kuhnke, M., Ringelstein, M., Ruprecht, K., Siebert, N., Schanda, K., Aktas, O., Paul, F., Reindl, M., Wildemann, B., Rostásy, K.

مصطلحات موضوعية: Function and Dysfunction of the Nervous System

وصف الملف: application/pdf; other

Relation: http://edoc.mdc-berlin.de/19363/1/19363oa.pdf; http://edoc.mdc-berlin.de/19363/7/19363suppl.zip; Cerebrospinal fluid findings in patients with myelin oligodendrocyte glycoprotein (MOG) antibodies. Part 2: Results from 108 lumbar punctures in 80 pediatric patients. Jarius, S. and Lechner, C. and Wendel, E.M. and Baumann, M. and Breu, M. and Schimmel, M. and Karenfort, M. and Marina, A.D. and Merkenschlager, A. and Thiels, C. and Blaschek, A. and Salandin, M. and Leiz, S. and Leypoldt, F. and Pschibul, A. and Hackenberg, A. and Hahn, A. and Syrbe, S. and Strautmanis, J. and Häusler, M. and Krieg, P. and Eisenkölbl, A. and Stoffels, J. and Eckenweiler, M. and Ayzenberg, I. and Haas, J. and Höftberger, R. and Kleiter, I. and Korporal-Kuhnke, M. and Ringelstein, M. and Ruprecht, K. and Siebert, N. and Schanda, K. and Aktas, O. and Paul, F. and Reindl, M. and Wildemann, B. and Rostásy, K. Journal of Neuroinflammation 17 (1): 262. 3 September 2020

الاتاحة: http://edoc.mdc-berlin.de/19363/
https://edoc.mdc-berlin.de/19363/
http://edoc.mdc-berlin.de/19363/1/19363oa.pdf
http://edoc.mdc-berlin.de/19363/7/19363suppl.zip
https://doi.org/10.1186/s12974-020-01825-1

المؤلفون: Thalwitzer, K.M., Driedger, J.H., Xian, J., Saffari, A., Zacher, P., Bölsterli, B.K., Ruggiero, S.M., Sullivan, K.R., Datta, A.N., Kellinghaus, C., Althaus, J., Wiemer-Kruel, A., Baalen, A. van, Pampel, A., Alber, M., Braakman, H.M.H., Debus, O.M., Denecke, J., Hobbiebrunken, E., Breitweg, I., Diehl, D., Eitel, H., Gburek-Augustat, J., Preisel, M., Schlump, J.U., Laufs, M., Mammadova, D., Wurst, C., Prager, C., Löhr-Nilles, C., Martin, P., Garbade, S.F., Platzer, K., Benkel-Herrenbrueck, I., Egler, K., Fazeli, W., Lemke, J.R., Runkel, E., Klein, B., Linden, T., Schröter, J., Steffeck, H., Thies, B., Deimling, F. von, Illsinger, S., Borggraefe, I., Classen, G., Wieczorek, D., Ramantani, G., Koelker, S., Hoffmann, G.F., Ries, M., Helbig, I., Syrbe, S.

المصدر: Neurology; e879; e891; 0028-3878; 9; 101; ~Neurology~e879~e891~~~0028-3878~9~101~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/296182/296182.pdf
https://repository.ubn.ru.nl/handle/2066/296182

المؤلفون: Teunissen, M.W.A., Lewerissa, E.I., Hugte, E.J.H. van, Wang, S., Ockeloen, C.W., Koolen, D.A., Pfundt, R.P., Marcelis, C.L.M., Brilstra, E., Howe, J.L., Scherer, S.W., Guillou, X. Le, Bilan, F., Primiano, M., Roohi, J., Piton, A., Saint Martin, A., Baer, S., Seiffert, S., Platzer, K., Jamra, R.A., Syrbe, S., Doering, J.H., Lakhani, S., Nangia, S., Gilissen, C., Vermeulen, R. Jeroen, Rouhl, R.P.W., Brunner, H.G., Willemsen, M.H., Nadif Kasri, N.

المصدر: Human Molecular Genetics; 2373; 2385; 0964-6906; 14; 32; ~Human Molecular Genetics~2373~2385~~~0964-6906~14~32~~

URL: https://repository.ubn.ru.nl//bitstream/handle/2066/294552/294552.pdf
https://repository.ubn.ru.nl/handle/2066/294552

المؤلفون: Masnada, S, Hedrich, UBS, Gardella, E, Schubert, J, Kaiwar, C, Klee, EW, Lanpher, BC, Gavrilova, RH, Synofzik, M, Bast, T, Gorman, K, King, MD, Allen, NM, Conroy, J, Ben Zeev, B, Tzadok, M, Korff, C, Dubois, F, Ramsey, K, Narayanan, V, Serratosa, JM, Giraldez, BG, Helbig, I, Marsh, E, O'Brien, M, Bergqvist, CA, Binelli, A, Porter, B, Zaeyen, E, Horovitz, DD, Wolff, M, Marjanovic, D, Caglayan, HS, Arslan, M, Pena, SDJ, Sisodiya, SM, Balestrini, S, Syrbe, S, Veggiotti, P, Lemke, JR, Moller, RS, Lerche, H, Rubboli, G

المصدر: Brain , 140 (9) pp. 2337-2354. (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Neurosciences, Neurosciences & Neurology, KCNA2, encephalopathy, gain-of-function, loss-of-function, phenotype-genotype associations, ONSET EPILEPTIC ENCEPHALOPATHY, DE-NOVO MUTATIONS, GATED K+ CHANNEL, POTASSIUM CHANNEL, MYOCLONIC EPILEPSY, GRIN2A MUTATIONS, KCNA2 GENE, KV1.2, SUBUNIT, SEIZURES

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/1575225/1/Balestrini_Rubboli%20KCNA2%20encephalopathy%20Brain%20final%20version.pdf; https://discovery.ucl.ac.uk/id/eprint/1575225/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/1575225/1/Balestrini_Rubboli%20KCNA2%20encephalopathy%20Brain%20final%20version.pdf
https://discovery.ucl.ac.uk/id/eprint/1575225/

المؤلفون: De Kovel, C., Syrbe, S., Brilstra, E., Verbeek, N., Kerr, B., Dubbs, H., Bayat, A., Desai, S., Naidu, S., Srivastava, S., Cagaylan, H., Yis, U., Saunders, C., Rook, M., Plugge, S., Muhle, H., Afawi, Z., Klein, K., Jayaraman, V., Rajagopalan, R., Goldberg, E., Marsh, E., Kessler, S., Bergqvist, C., Conlin, L., Krok, B., Thiffault, I., Pendziwiat, M., Helbig, I., Polster, T., Borggraefe, I., Lemke, J., Van den Boogaardt, M., Moller, R., Koeleman, B.

المصدر: JAMA Neurology

وصف الملف: application/pdf

Relation: http://hdl.handle.net/11858/00-001M-0000-002E-17A3-F; http://hdl.handle.net/11858/00-001M-0000-002E-17AD-C

الاتاحة: http://hdl.handle.net/11858/00-001M-0000-002E-17A3-F
http://hdl.handle.net/11858/00-001M-0000-002E-17AD-C

المؤلفون: Bölsterli, B.K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A.L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F.M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J.A., Prokisch, H., Wortmann, S.B.

المصدر: Nutrients 14:3605 (2022)

مصطلحات موضوعية: Agc1, Citrullinemia, Aspartate Glutamate Carrier 1 Deficiency, Citrin Deficiency, Epilepsy, Hepatopathy, Mitochondrial Disease, Modified Atkins Diet, Serine, Treatment

Relation: info:eu-repo/semantics/altIdentifier/pmid/36079864; info:eu-repo/semantics/altIdentifier/wos/WOS:000851854100001; info:eu-repo/semantics/altIdentifier/isbn/2072-6643; info:eu-repo/semantics/altIden

الاتاحة: https://push-zb.helmholtz-munich.de/frontdoor.php?source_opus=66155
https://doi.org/10.3390/nu14173605

المؤلفون: Seiffert, S., Pendziwiat, M., Bierhals, T., Goel, H., Schwarz, N., Ven, A van der, Boßelmann, C.M., Lemke, J., Syrbe, S., Willemsen, M.H., Hedrich, U.B.S., Helbig, I., Weber, Y.

المصدر: Ebiomedicine, 83

مصطلحات موضوعية: Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/284814/284814.pdf; https://repository.ubn.ru.nl/handle/2066/284814; https://doi.org/10.1016/j.ebiom.2022.104234

الاتاحة: https://repository.ubn.ru.nl//bitstream/handle/2066/284814/284814.pdf
https://repository.ubn.ru.nl/handle/2066/284814
https://doi.org/10.1016/j.ebiom.2022.104234

المؤلفون: Schroter, J., Popp, B., Brennenstuhl, H., Doring, J.H., Donze, S.H., Bijlsma, E.K., Haeringen, A. van, Huhle, D., Jestaedt, L., Merkenschlager, A., Arelin, M., Grafe, D., Neuser, S., Oates, S., Pal, D.K., Parker, M.J., Lemke, J.R., Hoffmann, G.F., Kolker, S., Harting, I., Syrbe, S.

المصدر: European Journal of Human Genetics

وصف الملف: application/pdf

Relation: lumc-id: 176355079; https://hdl.handle.net/1887/3562156

الاتاحة: https://hdl.handle.net/1887/3562156
https://doi.org/10.1038/s41431-021-01027-0

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