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1دورية أكاديمية
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 -
2دورية أكاديمية
المؤلفون: D'Gama, AM, Mulhern, S, Sheidley, BR, Boodhoo, F, Buts, S, Chandler, NJ, Cobb, J, Curtis, M, Higginbotham, E, Holland, J, Khan, T, Koh, J, Yliang, NS, Mcrae, L, Nesbitt, SE, Oby, BT, Paternoster, B, Patton, A, Rose, G, Scotchman, E, Valentine, R, Wiltrout, KN, Hayeems, RZ, Jain, P, Lunke, S, Marshall, CR, Rockowitz, S, Sebire, N, Stark, Z, White, SM, Chitty, LS, Cross, JH, Scheffer, IE, Chau, V, Costain, G, Poduri, A, Howell, KB, McTague, A
العلاقة: NHMRC/1172897; NHMRC/2006841; NHMRC/2010562; pii: S1474-4422(23)00246-6; D'Gama, A. M., Mulhern, S., Sheidley, B. R., Boodhoo, F., Buts, S., Chandler, N. J., Cobb, J., Curtis, M., Higginbotham, E., Holland, J., Khan, T., Koh, J., Yliang, N. S., Mcrae, L., Nesbitt, S. E., Oby, B. T., Paternoster, B., Patton, A., Rose, G. ,. McTague, A. (2023). Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. LANCET NEUROLOGY, 22 (9), pp.812-825. https://doi.org/10.1016/S1474-4422Test(23)00246-6.; http://hdl.handle.net/11343/338334Test
الإتاحة: https://doi.org/10.1016/S1474-4422Test(23)00246-6
http://hdl.handle.net/11343/338334Test -
3دورية أكاديمية
المؤلفون: Scala, M, Nishikawa, M, Ito, H, Tabata, H, Khan, T, Accogli, A, Davids, L, Ruiz, A, Chiurazzi, P, Cericola, G, Schulte, B, Monaghan, KG, Begtrup, A, Torella, A, Pinelli, M, Denomme-Pichon, AS, Vitobello, A, Racine, C, Mancardi, MM, Kiss, C, Guerin, A, Wu, W, Vila, EG, Mak, BC, Martinez-Agosto, JA, Gorin, MB, Duz, B, Bayram, Y, Carvalho, CMB, Vengoechea, JE, Chitayat, D, Tan, TY, Callewaert, B, Kruse, B, Bird, LM, Faivre, L, Zollino, M, Biskup, S, Striano, P, Nigro, V, Severino, M, Capra, V, Costain, G, Nagata, K-I
العلاقة: pii: 6628315; Scala, M., Nishikawa, M., Ito, H., Tabata, H., Khan, T., Accogli, A., Davids, L., Ruiz, A., Chiurazzi, P., Cericola, G., Schulte, B., Monaghan, K. G., Begtrup, A., Torella, A., Pinelli, M., Denomme-Pichon, A. S., Vitobello, A., Racine, C., Mancardi, M. M. ,. Nagata, K. -I. (2022). Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes. BRAIN, 145 (9), pp.3308-3327. https://doi.org/10.1093/brain/awac106Test.; http://hdl.handle.net/11343/318076Test
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4دورية أكاديمية
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 -
5دورية أكاديمية
المؤلفون: Cleynen I., Engchuan W., Hestand M. S., Heung T., Holleman A. M., Johnston H. R., Monfeuga T., McDonald-McGinn D. M., Gur R. E., Morrow B. E., Swillen A., Vorstman J. A. S., Bearden C. E., Chow E. W. C., van den Bree M., Emanuel B. S., Vermeesch J. R., Warren S. T., Owen M. J., Chopra P., Cutler D. J., Duncan R., Kotlar A. V., Mulle J. G., Voss A. J., Zwick M. E., Diacou A., Golden A., Guo T., Lin J. -R., Wang T., Zhang Z., Zhao Y., Marshall C., Merico D., Jin A., Lilley B., Salmons H. I., Tran O., Holmans P., Pardinas A., Walters J. T. R., Demaerel W., Boot E., Butcher N. J., Costain G. A., Lowther C., Evers R., van Amelsvoort T. A. M. J., van Duin E., Vingerhoets C., Breckpot J., Devriendt K., Vergaelen E., Vogels A., Crowley T. B., McGinn D. E., Moss E. M., Sharkus R. J., Unolt M., Zackai E. H., Calkins M. E., Gallagher R. S., Gur R. C., Tang S. X., Fritsch R., Ornstein C., Repetto G. M., Breetvelt E., Duijff S. N., Fiksinski A., Moss H., Niarchou M., Murphy K. C., Prasad S. E., Daly E. M., Gudbrandsen M., Murphy C. M., Murphy D. G., Buzzanca A., Fabio F. D., Digilio M. C., Pontillo M., Marino B., Vicari S., Coleman K., Cubells J. F., Ousley O. Y., Carmel M., Gothelf D., Mekori-Domachevsky E., Michaelovsky E., Weinberger R., Weizman A., Kushan L., Jalbrzikowski M., Armando M., Eliez S., Sandini C., Schneider M., Bena F. S., Antshel K. M., Fremont W., Kates W. R., Belzeaux R., Busa T., Philip N., Campbell L. E., McCabe K. L., Hooper S. R., Schoch K., Shashi V., Simon T. J., Tassone F., Arango C., Fraguas D., Garcia-Minaur S., Morey-Canyelles J., Rosell J., Suner D. H., Raventos-Simic J., Epstein M. P., Williams N. M., Bassett A. S.
المساهمون: Cleynen, I., Engchuan, W., Hestand, M. S., Heung, T., Holleman, A. M., Johnston, H. R., Monfeuga, T., McDonald-McGinn, D. M., Gur, R. E., Morrow, B. E., Swillen, A., Vorstman, J. A. S., Bearden, C. E., Chow, E. W. C., van den Bree, M., Emanuel, B. S., Vermeesch, J. R., Warren, S. T., Owen, M. J., Chopra, P., Cutler, D. J., Duncan, R., Kotlar, A. V., Mulle, J. G., Voss, A. J., Zwick, M. E., Diacou, A., Golden, A., Guo, T., Lin, J. -R., Wang, T., Zhang, Z., Zhao, Y., Marshall, C., Merico, D., Jin, A., Lilley, B., Salmons, H. I., Tran, O., Holmans, P., Pardinas, A., Walters, J. T. R., Demaerel, W., Boot, E., Butcher, N. J., Costain, G. A., Lowther, C., Evers, R., van Amelsvoort, T. A. M. J., van Duin, E., Vingerhoets, C., Breckpot, J., Devriendt, K., Vergaelen, E., Vogels, A., Crowley, T. B., McGinn, D. E., Moss, E. M., Sharkus, R. J., Unolt, M., Zackai, E. H., Calkins, M. E., Gallagher, R. S., Gur, R. C., Tang, S. X., Fritsch, R., Ornstein, C., Repetto, G. M., Breetvelt, E., Duijff, S. N., Fiksinski, A., Moss, H., Niarchou, M., Murphy, K. C., Prasad, S. E., Daly, E. M., Gudbrandsen, M., Murphy, C. M., Murphy, D. G., Buzzanca, A., Fabio, F. D., Digilio, M. C., Pontillo, M., Marino, B., Vicari, S., Coleman, K., Cubells, J. F., Ousley, O. Y., Carmel, M., Gothelf, D., Mekori-Domachevsky, E., Michaelovsky, E., Weinberger, R., Weizman, A., Kushan, L., Jalbrzikowski, M., Armando, M., Eliez, S., Sandini, C., Schneider, M.
مصطلحات موضوعية: genetic, 22q11deletion syndrome, schizophrenia
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/32015465; info:eu-repo/semantics/altIdentifier/wos/WOS:000510821800003; journal:MOLECULAR PSYCHIATRY; http://hdl.handle.net/11573/1486440Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85079175539
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6دورية أكاديمية
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
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7دورية أكاديمية
المؤلفون: Kumar, R. (Raman), Palmer, E. (Elizabeth), Gardner, A.E. (Alison), Carroll, R. (Renee), Banka, S. (Siddharth), Abdelhadi, O. (Ola), Donnai, D. (Dian), Elgersma, Y. (Ype), Curry, C.J. (Cynthia J.), Gardham, A. (Alice), Suri, M. (Mohnish), Malla, R. (Rishikesh), Brady, L.I. (Lauren Ilana), Tarnopolsky, M.A. (Mark), Azmanov, D.N. (Dimitar N.), Atkinson, V. (Vanessa), Black, M. (Michael), Baynam, G. (Gareth), Dreyer, L. (Lauren), Hayeems, R.Z. (Robin Z.), Marshall, C.R. (Christian), Costain, G. (Gregory), Wessels, M.W. (Marja), Baptista, J. (Julia), Drummond, J. (James), Leffler, M. (Melanie), Field, M. (Michael), Gecz, J. (Jozef)
المصدر: Frontiers in Molecular Neuroscience vol. 13
مصطلحات موضوعية: intellectual disability, microdeletion, mRNA export, neurodevelopmental disorders, THOC2
وصف الملف: application/pdf
العلاقة: http://repub.eur.nl/pub/126449Test; urn:hdl:1765/126449
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8دورية أكاديمية
المؤلفون: Del Caño-Ochoa, F, Ng, BG, Abedalthagafi, M, Almannai, M, Cohn, RD, Costain, G, Elpeleg, O, Houlden, H, Karimiani, EG, Liu, P, Manzini, MC, Maroofian, R, Muriello, M, Al-Otaibi, A, Patel, H, Shimon, E, Sutton, VR, Toosi, MB, Wolfe, LA, Rosenfeld, JA, Freeze, HH, Ramón-Maiques, S
المصدر: Genetics in Medicine (2020) (In press).
مصطلحات موضوعية: aspartate transcarbamoylase, carbamoyl phosphate synthetase, congenital disorder of glycosylation, de novo pyrimidine biosynthesis, dihydroorotase
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10102264/1/s41436-020-0833-2.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10102264Test/
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9دورية أكاديمية
المؤلفون: Gehin, C., Lone, M.A., Lee, W., Capolupo, L., Ho, S., Adeyemi, A.M., Gerkes, E.H., Stegmann, A.P.A., López-Martín, E., Bermejo-Sánchez, E., Martínez-Delgado, B., Zweier, C., Kraus, C., Popp, B., Strehlow, V., Gräfe, D., Knerr, I., Jones, E.R., Zamuner, S., Abriata, L.A., Kunnathully, V., Moeller, B.E., Vocat, A., Rommelaere, S., Bocquete, J.P., Ruchti, E., Limoni, G., Campenhoudt, M. Van, Bourgeat, S., Henklein, P., Gilissen, C.F., Bon, B.W.M. van, Pfundt, R.P., Willemsen, M.H., Schieving, J.H., Leonardi, E., Soli, F., Murgia, A., Guo, H, Zhang, Qiumeng, Xia, K., Fagerberg, C.R., Beier, C.P., Larsen, M.J., Valenzuela, I., Fernández-Álvarez, P., Xiong, S., Śmigiel, R., López-González, V., Armengol, L., Morleo, M., Selicorni, A., Torella, A., Blyth, M., Cooper, N.S., Wilson, V., Oegema, R., Herenger, Y., Garde, A., Bruel, A.L., Tran Mau-Them, F., Maddocks, A.B., Bain, J.M., Bhat, M.A., Costain, G., Kannu, P., Marwaha, A., Champaigne, N.L., Friez, M.J., Richardson, E.B., Gowda, V.K., Srinivasan, V.M., Gupta, Y., Lim, T.Y., Sanna-Cherchi, S., Lemaitre, B., Yamaji, T., Hanada, K., Burke, J.E., Jakšić, A.M., McCabe, B.D., Los Rios, P. De, Hornemann, T., D'Angelo, G., Gennarino, V.A.
المصدر: Journal of Clinical Investigation, 133, 10
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 3: Disorders of movement DCMN: Donders Center for Medical Neuroscience, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/292866/292866.pdfTest; https://repository.ubn.ru.nl/handle/2066/292866Test
الإتاحة: https://doi.org/10.1172/JCI165019Test
https://repository.ubn.ru.nl//bitstream/handle/2066/292866/292866.pdfTest
https://repository.ubn.ru.nl/handle/2066/292866Test -
10دورية أكاديمية
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
العلاقة: Molecular Psychiatry Vol. 28, Issue 2, p. 668-697; http://hdl.handle.net/1959.13/1480388Test; uon:50492
النص الكامل