المؤلفون: Ferreira, CR, Xia, ZJ, Clement, A, Parry, DA, Davids, M, Taylan, F, Sharma, P, Turgeon, CT, Blanco-Sanchez, B, Ng, BG, Logan, CV, Wolfe, LA, Solomon, BD, Cho, MT, Douglas, G, Carvalho, DR, Bratke, H, Haug, MG, Phillips, JB, Wegner, J, Tiemeyer, M, Aoki, K, Nordgren, A, Hammarsjo, A, Duker, AL, Rohena, L, Hove, HB, Ek, J, Adams, D, Tifft, CJ, Onyekweli, T, Weixel, T, Macnamara, E, Radtke, K, Powis, Z, Earl, D, Gabriel, M, Russi, AHS, Brick, L, Kozenko, M, Tham, E, Raymond, KM, Phillips, JA, Tiller, GE, Wilson, WG, Hamid, R, Malicdan, MCV, Nishimura, G, Grigelioniene, G, Jackson, A, Westerfield, M, Bober, MB, Gahl, WA, Freeze, HH

المصدر: American journal of human genetics. 103(4):553-567

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:139252419Test

المؤلفون: Palmer, EE, Pusch, M, Picollo, A, Forwood, C, Nguyen, MH, Suckow, V, Gibbons, J, Hoff, A, Sigfrid, L, Megarbane, A, Nizon, M, Cogné, B, Beneteau, C, Alkuraya, FS, Chedrawi, A, Hashem, MO, Stamberger, H, Weckhuysen, S, Vanlander, A, Ceulemans, B, Rajagopalan, S, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Dupuis, L, Mendoza-Londono, R, Dudding-Byth, T, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

المصدر: urn:ISSN:1359-4184 ; urn:ISSN:1476-5578 ; Molecular Psychiatry, 28, 2, 668-697

مصطلحات موضوعية: Neurosciences, Genetics, Pediatric, Clinical Research, Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels, anzsrc-for: 06 Biological Sciences, anzsrc-for: 11 Medical and Health Sciences, anzsrc-for: 17 Psychology and Cognitive Sciences

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/1959.4/unsworks_85769Test; https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest; https://doi.org/10.1038/s41380-022-01852-9Test

الإتاحة: https://doi.org/10.1038/s41380-022-01852-9Test
http://hdl.handle.net/1959.4/unsworks_85769Test
https://unsworks.unsw.edu.au/bitstreams/18945c2e-a4a9-40c3-b8df-9af5dc95fc41/downloadTest

المؤلفون: Guerrini, R. (Renzo), Mei, D. (Davide), Kerti-Szigeti, K. (Katalin), Pepe, S. (Sara), Koenig, M. K. (Mary Kay), Von Allmen, G. (Gretchen), Cho, M. T. (Megan T), McDonald, K. (Kimberly), Baker, J. (Janice), Bhambhani, V. (Vikas), Powis, Z. (Zöe), Rodan, L. (Lance), Nabbout, R. (Rima), Barcia, G. (Giulia), Rosenfeld, J. A. (Jill A), Bacino, C. A. (Carlos A), Mignot, C. (Cyril), Power, L. H. (Lillian H), Harris, C. J. (Catharine J), Marjanovic, D. (Dragan), Møller, R. S. (Rikke S), Hammer, T. B. (Trine B), T. D. (The DDD Study), Keski Filppula, R. (Riikka), Vieira, P. (Päivi), Hildebrandt, C. (Clara), Sacharow, S. (Stephanie), U. D. (Undiagnosed Diseases Network), Maragliano, L. (Luca), Benfenati, F. (Fabio), Lachlan, K. (Katherine), Benneche, A. (Andreas), Petit, F. (Florence), de Sainte Agathe, J. M. (Jean Madeleine), Hallinan, B. (Barbara), Si, Y. (Yue), Wentzensen, I. M. (Ingrid M), Zou, F. (Fanggeng), Narayanan, V. (Vinodh), Matsumoto, N. (Naomichi), Boncristiano, A. (Alessandra), la Marca, G. (Giancarlo), Kato, M. (Mitsuhiro), Anderson, K. (Kristin), Barba, C. (Carmen), Sturiale, L. (Luisa), Garozzo, D. (Domenico), Bei, R. (Roberto), A. c. (ATP6V1A collaborators), Masuelli, L. (Laura), Conti, V. (Valerio), Novarino, G. (Gaia), Fassio, A. (Anna)

مصطلحات موضوعية: ATP6V1A, developmental delay, epileptic encephalopathy, lysosomal disorder, progressive brain atrophy

وصف الملف: application/pdf

الإتاحة: http://urn.fi/urn:nbn:fi-fe2023022728799Test

المؤلفون: Tessadori, F, Duran, K, Knapp, K, Fellner, M, Smithson, S, Beleza Meireles, A, Elting, MW, Waisfisz, Q, O'Donnell-Luria, A, Nowak, C, Douglas, J, Ronan, A, Brunet, T, Kotzaeridou, U, Svihovec, S, Saenz, MS, Thiffault, I, Del Viso, F, Devine, P, Rego, S, Tenney, J, van Haeringen, A, Ruivenkamp, CAL, Koene, S, Robertson, SP, Deshpande, C, Pfundt, R, Verbeek, N, van de Kamp, JM, Weiss, JMM, Ruiz, A, Gabau, E, Banne, E, Pepler, A, Bottani, A, Laurent, S, Guipponi, M, Bijlsma, E, Bruel, A-L, Sorlin, A, Willis, M, Powis, Z, Smol, T, Vincent-Delorme, C, Baralle, D, Colin, E, Revencu, N, Calpena, E, Wilkie, AOM

المساهمون: Study, Deciphering Developmental Disorders

العلاقة: https://ora.ox.ac.uk/objects/uuid:d036a687-fbe7-4c19-9230-f364f97a7cefTest; https://doi.org/10.1016/j.ajhg.2022.02.003Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.02.003Test
https://ora.ox.ac.uk/objects/uuid:d036a687-fbe7-4c19-9230-f364f97a7cefTest

المؤلفون: Bryant L., Li D., Cox S. G., Marchione D., Joiner E. F., Wilson K., Janssen K., Lee P., March M. E., Nair D., Sherr E., Fregeau B., Wierenga K. J., Wadley A., Mancini G. M. S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H. P., Powis Z., Cho M. T., Willing M. C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C. B., Retterer K., Schuette J. L., Innis J. W., Pizzino A., Luttgen S., Denecke J., Strom T. M., Monaghan K. G., Yuan Z. -F., Dubbs H., Bend R., Lee J. A., Lyons M. J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K. L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M. H., Ounap K., Ilves P., Innes A. M., Kernohan K. D., Costain G., Meyn M. S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M. G., Martinez-Agosto J. A., Nelson S. F., Palmer C. G. S., Papp J. C., Parker N. H., Sinsheimer J. S., Vilain E., Wan J., Yoon A. J., Zheng A., Brimble E., Ferrero G. B., Radio F. C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J. M., Umana L., Weiss M. M., Gotway G., Stuurman K. E., Thompson M. L., McWalter K., Stumpel C. T. R. M., Stevens S. J. C., Stegmann A. P. A., Tveten K., Vollo A., Prescott T., Fagerberg C., Laulund L. W., Larsen M. J., Byler M., Lebel R. R., Hurst A. C., Schrier Vergano S. A., Norman J., Mercimek-Andrews S., Neira J., Van Allen M. I., Longo N., Sellars E., Louie R. J., Cathey S. S., Brokamp E., Heron D., Snyder M., Vanderver A., Simon C., de la Cruz X., Padilla N., Crump J. G., Chung W., Garcia B., Hakonarson H. H., Bhoj E. J.

المساهمون: Bryant L., Li D., Cox S.G., Marchione D., Joiner E.F., Wilson K., Janssen K., Lee P., March M.E., Nair D., Sherr E., Fregeau B., Wierenga K.J., Wadley A., Mancini G.M.S., Powell-Hamilton N., van de Kamp J., Grebe T., Dean J., Ross A., Crawford H.P., Powis Z., Cho M.T., Willing M.C., Manwaring L., Schot R., Nava C., Afenjar A., Lessel D., Wagner M., Klopstock T., Winkelmann J., Catarino C.B., Retterer K., Schuette J.L., Innis J.W., Pizzino A., Luttgen S., Denecke J., Strom T.M., Monaghan K.G., Yuan Z.-F., Dubbs H., Bend R., Lee J.A., Lyons M.J., Hoefele J., Gunthner R., Reutter H., Keren B., Radtke K., Sherbini O., Mrokse C., Helbig K.L., Odent S., Cogne B., Mercier S., Bezieau S., Besnard T., Kury S., Redon R., Reinson K., Wojcik M.H., Ounap K., Ilves P., Innes A.M., Kernohan K.D., Costain G., Meyn M.S., Chitayat D., Zackai E., Lehman A., Kitson H., Martin M.G., Martinez-Agosto J.A., Nelson S.F., Palmer C.G.S., Papp J.C., Parker N.H., Sinsheimer J.S., Vilain E., Wan J., Yoon A.J., Zheng A., Brimble E., Ferrero G.B., Radio F.C., Carli D., Barresi S., Brusco A., Tartaglia M., Thomas J.M., Umana L., Weiss M.M., Gotway G., Stuurman K.E., Thompson M.L., McWalter K., Stumpel C.T.R.M., Stevens S.J.C.

مصطلحات موضوعية: histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/33268356; info:eu-repo/semantics/altIdentifier/wos/WOS:000596477400029; volume:6; issue:49; firstpage:1; lastpage:11; numberofpages:11; journal:SCIENCE ADVANCES; http://hdl.handle.net/2318/1764207Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85097125370; https://advances.sciencemag.org/content/6/49/eabc9207Test

الإتاحة: https://doi.org/10.1126/sciadv.abc9207Test
http://hdl.handle.net/2318/1764207Test
https://advances.sciencemag.org/content/6/49/eabc9207Test

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

العلاقة: 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/awab052Test.; http://hdl.handle.net/11343/307672Test

الإتاحة: https://doi.org/10.1093/brain/awab052Test
http://hdl.handle.net/11343/307672Test

المؤلفون: Powis, Z., Farwell Hagman, K. D., Mroske, C., McWalter, K., Cohen, J. S., Colombo, R., Serretti, A., Fatemi, A., David, K. L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C. M., Payne, K., Barbaro-Dieber, T., Gripp, K. W., Baker, L., Stamper, T., Aleck, K. A., Jordan, E. S., Hersh, J. H., Burton, J., Wentzensen, I. M., Guillen Sacoto, M. J., Willaert, R., Cho, M. T., Petrik, I., Huether, R., Tang, S.

المساهمون: Powis, Z.*, Farwell Hagman, K.D., Mroske, C., McWalter, K., Cohen, J.S., Colombo, R., Serretti, A., Fatemi, A., David, K.L., Reynolds, J., Immken, L., Nagakura, H., Cunniff, C.M., Payne, K., Barbaro-Dieber, T., Gripp, K.W., Baker, L., Stamper, T., Aleck, K.A., Jordan, E.S., Hersh, J.H., Burton, J., Wentzensen, I.M., Guillen Sacoto, M.J., Willaert, R., Cho, M.T., Petrik, I., Huether, R., Tang, S.

مصطلحات موضوعية: exome sequencing, haploinsufficiency, intellectual disability, SETD5, Genetic, Genetics (clinical)

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28881385; info:eu-repo/semantics/altIdentifier/wos/WOS:000427471000004; volume:93; issue:4; firstpage:752; lastpage:761; numberofpages:10; journal:CLINICAL GENETICS; http://hdl.handle.net/11585/659339Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85043992666; http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1Test

الإتاحة: https://doi.org/10.1111/cge.13132Test
http://hdl.handle.net/11585/659339Test
http://www.blackwellpublishing.com/aims.asp?ref=0009-9163?site=1Test

المؤلفون: Palmer, Elizabeth E., Pusch, Michael, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Picollo, Alessandra, Rajagopalan, Sulekha, Nunn, K, Arpin, S, Raynaud, M, Motter, CS, Ward-Melver, C, Janssens, K, Meuwissen, M, Beysen, D, Dikow, N, Forwood, Caitlin, Grimmel, M, Haack, TB, Clement, E, McTague, A, Hunt, D, Townshend, S, Ward, M, Richards, LJ, Simons, C, Costain, G, Nguyen, Matthew H., Dupuis, L, Mendoza-Londono, R, Dudding-Byth, Tracy, Boyle, J, Saunders, C, Fleming, E, El Chehadeh, S, Spitz, MA, Piton, A, Gerard, B, Suckow, Vanessa, Abi Warde, MT, Rea, G, McKenna, C, Douzgou, S, Banka, S, Akman, C, Bain, JM, Sands, TT, Wilson, GN, Silvertooth, EJ, Gibbons, Jessica, Miller, L, Lederer, D, Sachdev, R, Macintosh, R, Monestier, O, Karadurmus, D, Collins, F, Carter, M, Rohena, L, Willemsen, MH, Hoff, Alva, Ockeloen, CW, Pfundt, R, Kroft, SD, Field, M, Laranjeira, FER, Fortuna, AM, Soares, AR, Michaud, V, Naudion, S, Golla, S, Sigfrid, Lisa, Weaver, DD, Bird, LM, Friedman, J, Clowes, V, Joss, S, Pölsler, L, Campeau, PM, Blazo, M, Bijlsma, EK, Rosenfeld, JA, Megarbane, Andre, Beetz, C, Powis, Z, McWalter, K, Brandt, T, Torti, E, Mathot, M, Mohammad, SS, Armstrong, R, Kalscheuer, VM

المساهمون: The University of Newcastle. College of Health, Medicine & Wellbeing, School of Medicine and Public Health

مصطلحات موضوعية: gene, missense, variants, diagnosis

العلاقة: Molecular Psychiatry Vol. 28, Issue 2, p. 668-697; http://hdl.handle.net/1959.13/1480388Test; uon:50492

الإتاحة: http://hdl.handle.net/1959.13/1480388Test

المؤلفون: Guerrini, R., Mei, D., Kerti-Szigeti, K., Pepe, S., Koenig, M. K., Von Allmen, G., Cho, M. T., Mcdonald, K., Baker, J., Bhambhani, V., Powis, Z., Rodan, L., Nabbout, R., Barcia, G., Rosenfeld, J. A., Bacino, C. A., Mignot, C., Power, L. H., Harris, C. J., Marjanovic, D., Møller, R. S., Hammer, T. B., Keski Filppula, R., Vieira, P., Hildebrandt, C., Sacharow, S., Maragliano, L., Benfenati, F., Lachlan, K., Benneche, A., Petit, Florence, De Sainte Agathe, J. M., Hallinan, B., Si, Y., Wentzensen, I. M., Zou, F., Narayanan, V., Matsumoto, N., Boncristiano, A., La Marca, G., Kato, M., Anderson, K., Barba, C., Sturiale, L., Garozzo, D., Bei, R., Masuelli, L., Conti, V., Novarino, G., Fassio, A.

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

مصطلحات موضوعية: epileptic encephalopathy, lysosomal disorder, progressive brain atrophy, developmental delay

وصف الملف: application/octet-stream

العلاقة: Brain; http://hdl.handle.net/20.500.12210/84149Test

الإتاحة: https://doi.org/20.500.12210/84149Test
https://hdl.handle.net/20.500.12210/84149Test

المؤلفون: Wolking, S, May, P, Mei, D, Møller, RS, Balestrini, S, Helbig, KL, Altuzarra, CD, Chatron, N, Kaiwar, C, Stöhr, K, Widdess-Walsh, P, Mendelsohn, BA, Numis, A, Cilio, MR, Van Paesschen, W, Svendsen, LL, Oates, S, Hughes, E, Goyal, S, Brown, K, Saenz, M, Dorn, T, Muhle, H, Pagnamenta, AT, Vavoulis, DV, Knight, SJL, Taylor, JC, Canevini, MP, Darra, F, Gavrilova, RH, Powis, Z, Tang, S, Marquetand, J, Armstrong, M, McHale, D, Klee, EW, Kluger, GJ, Lowenstein, DH, Weckhuysen, S, Pal, DK, Helbig, I, Guerrini, R, Thomas, RH, Rees, MI, Lesca, G, Sisodiya, SM, Weber, YG, Lal, D, Marini, C, Lerche, H, Schubert, J

العلاقة: https://ora.ox.ac.uk/objects/uuid:f1aeb1c9-8794-4078-bfd7-52bff01a7714Test; https://doi.org/10.1212/wnl.0000000000007089Test

الإتاحة: https://doi.org/10.1212/wnl.0000000000007089Test
https://ora.ox.ac.uk/objects/uuid:f1aeb1c9-8794-4078-bfd7-52bff01a7714Test