Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:141067079" > Heterozygous Varian...
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000 | 13317naa a2204873 4500 | |
001 | oai:prod.swepub.kib.ki.se:141067079 | |
003 | SwePub | |
008 | 240912s2019 | |||||||||||000 ||eng| | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1410670792 URI |
024 | 7 | a https://doi.org/10.1016/j.ajhg.2019.03.0212 DOI |
040 | a (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a O'Donnell-Luria, AH4 aut |
245 | 1 0 | a Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy |
264 | 1 | b Elsevier BV,c 2019 |
700 | 1 | a Pais, LS4 aut |
700 | 1 | a Faundes, V4 aut |
700 | 1 | a Wood, JC4 aut |
700 | 1 | a Sveden, A4 aut |
700 | 1 | a Luria, V4 aut |
700 | 1 | a Abou Jamra, R4 aut |
700 | 1 | a Accogli, A4 aut |
700 | 1 | a Amburgey, K4 aut |
700 | 1 | a Anderlid, BMu Karolinska Institutet4 aut |
700 | 1 | a Azzarello-Burri, S4 aut |
700 | 1 | a Basinger, AA4 aut |
700 | 1 | a Bianchini, C4 aut |
700 | 1 | a Bird, LM4 aut |
700 | 1 | a Buchert, R4 aut |
700 | 1 | a Carre, W4 aut |
700 | 1 | a Ceulemans, S4 aut |
700 | 1 | a Charles, P4 aut |
700 | 1 | a Cox, H4 aut |
700 | 1 | a Culliton, L4 aut |
700 | 1 | a Curro, A4 aut |
700 | 1 | a Demurger, F4 aut |
700 | 1 | a Dowling, JJ4 aut |
700 | 1 | a Duban-Bedu, B4 aut |
700 | 1 | a Dubourg, C4 aut |
700 | 1 | a Eiset, SE4 aut |
700 | 1 | a Escobar, LF4 aut |
700 | 1 | a Ferrarini, A4 aut |
700 | 1 | a Haack, TB4 aut |
700 | 1 | a Hashim, M4 aut |
700 | 1 | a Heide, S4 aut |
700 | 1 | a Helbig, KL4 aut |
700 | 1 | a Helbig, I4 aut |
700 | 1 | a Heredia, R4 aut |
700 | 1 | a Heron, D4 aut |
700 | 1 | a Isidor, B4 aut |
700 | 1 | a Jonasson, AR4 aut |
700 | 1 | a Joset, P4 aut |
700 | 1 | a Keren, B4 aut |
700 | 1 | a Kok, F4 aut |
700 | 1 | a Kroes, HY4 aut |
700 | 1 | a Lavillaureix, A4 aut |
700 | 1 | a Lu, X4 aut |
700 | 1 | a Maas, SM4 aut |
700 | 1 | a Maegawa, GHB4 aut |
700 | 1 | a Marcelis, CLM4 aut |
700 | 1 | a Mark, PR4 aut |
700 | 1 | a Masruha, MR4 aut |
700 | 1 | a McLaughlin, HM4 aut |
700 | 1 | a McWalter, K4 aut |
700 | 1 | a Melchinger, EU4 aut |
700 | 1 | a Mercimek-Andrews, S4 aut |
700 | 1 | a Nava, C4 aut |
700 | 1 | a Pendziwiat, M4 aut |
700 | 1 | a Person, R4 aut |
700 | 1 | a Ramelli, GP4 aut |
700 | 1 | a Ramos, LLP4 aut |
700 | 1 | a Rauch, A4 aut |
700 | 1 | a Reavey, C4 aut |
700 | 1 | a Renieri, A4 aut |
700 | 1 | a Riess, A4 aut |
700 | 1 | a Sanchez-Valle, A4 aut |
700 | 1 | a Sattar, S4 aut |
700 | 1 | a Saunders, C4 aut |
700 | 1 | a Schwarz, N4 aut |
700 | 1 | a Smol, T4 aut |
700 | 1 | a Srour, M4 aut |
700 | 1 | a Steindl, K4 aut |
700 | 1 | a Syrbe, S4 aut |
700 | 1 | a Taylor, JC4 aut |
700 | 1 | a Telegrafi, A4 aut |
700 | 1 | a Thiffault, I4 aut |
700 | 1 | a Trauner, DA4 aut |
700 | 1 | a van der Linden, H4 aut |
700 | 1 | a van Koningsbruggen, S4 aut |
700 | 1 | a Villard, L4 aut |
700 | 1 | a Vogel, I4 aut |
700 | 1 | a Vogt, J4 aut |
700 | 1 | a Weber, YG4 aut |
700 | 1 | a Wentzensen, IM4 aut |
700 | 1 | a Widjaja, E4 aut |
700 | 1 | a Zak, J4 aut |
700 | 1 | a Baxter, S4 aut |
700 | 1 | a Banka, S4 aut |
700 | 1 | a Rodan, LH4 aut |
700 | 1 | a Mcrae, JF4 aut |
700 | 1 | a Clayton, S4 aut |
700 | 1 | a Fitzgerald, TW4 aut |
700 | 1 | a Kaplanis, J4 aut |
700 | 1 | a Prigmore, E4 aut |
700 | 1 | a Rajan, D4 aut |
700 | 1 | a Sifrim, A4 aut |
700 | 1 | a Aitken, S4 aut |
700 | 1 | a Akawi, N4 aut |
700 | 1 | a Alvi, M4 aut |
700 | 1 | a Ambridge, K4 aut |
700 | 1 | a Barrett, DM4 aut |
700 | 1 | a Bayzetinova, T4 aut |
700 | 1 | a Jones, P4 aut |
700 | 1 | a Jones, WD4 aut |
700 | 1 | a King, D4 aut |
700 | 1 | a Krishnappa, N4 aut |
700 | 1 | a Mason, LE4 aut |
700 | 1 | a Singh, T4 aut |
700 | 1 | a Tivey, AR4 aut |
700 | 1 | a Ahmed, M4 aut |
700 | 1 | a Anjum, U4 aut |
700 | 1 | a Archer, H4 aut |
700 | 1 | a Armstrong, R4 aut |
700 | 1 | a Awada, J4 aut |
700 | 1 | a Balasubramanian, M4 aut |
700 | 1 | a Banka, S4 aut |
700 | 1 | a Baralle, D4 aut |
700 | 1 | a Barnicoat, A4 aut |
700 | 1 | a Batstone, P4 aut |
700 | 1 | a Baty, D4 aut |
700 | 1 | a Bennett, C4 aut |
700 | 1 | a Berg, J4 aut |
700 | 1 | a Bernhard, B4 aut |
700 | 1 | a Bevan, AP4 aut |
700 | 1 | a Bitner-Glindzicz, M4 aut |
700 | 1 | a Blair, E4 aut |
700 | 1 | a Blyth, M4 aut |
700 | 1 | a Bohanna, D4 aut |
700 | 1 | a Bourdon, L4 aut |
700 | 1 | a Bourn, D4 aut |
700 | 1 | a Bradley, L4 aut |
700 | 1 | a Brady, A4 aut |
700 | 1 | a Brent, S4 aut |
700 | 1 | a Brewer, C4 aut |
700 | 1 | a Brunstrom, K4 aut |
700 | 1 | a Bunyan, DJ4 aut |
700 | 1 | a Burn, J4 aut |
700 | 1 | a Canham, N4 aut |
700 | 1 | a Castle, B4 aut |
700 | 1 | a Chandler, K4 aut |
700 | 1 | a Chatzimichali, E4 aut |
700 | 1 | a Cilliers, D4 aut |
700 | 1 | a Clarke, A4 aut |
700 | 1 | a Clasper, S4 aut |
700 | 1 | a Clayton-Smith, J4 aut |
700 | 1 | a Clowes, V4 aut |
700 | 1 | a Coates, A4 aut |
700 | 1 | a Cole, T4 aut |
700 | 1 | a Colgiu, I4 aut |
700 | 1 | a Collins, A4 aut |
700 | 1 | a Collinson, MN4 aut |
700 | 1 | a Connell, F4 aut |
700 | 1 | a Cooper, N4 aut |
700 | 1 | a Cox, H4 aut |
700 | 1 | a Cresswell, L4 aut |
700 | 1 | a Cross, G4 aut |
700 | 1 | a Crow, Y4 aut |
700 | 1 | a D'Alessandro, M4 aut |
700 | 1 | a Dabir, T4 aut |
700 | 1 | a Davidson, R4 aut |
700 | 1 | a Davies, S4 aut |
700 | 1 | a de Vries, D4 aut |
700 | 1 | a Dean, J4 aut |
700 | 1 | a Deshpande, C4 aut |
700 | 1 | a Devlin, G4 aut |
700 | 1 | a Dixit, A4 aut |
700 | 1 | a Dobbie, A4 aut |
700 | 1 | a Donaldson, A4 aut |
700 | 1 | a Donnai, D4 aut |
700 | 1 | a Donnelly, D4 aut |
700 | 1 | a Donnelly, C4 aut |
700 | 1 | a Douglas, A4 aut |
700 | 1 | a Douzgou, S4 aut |
700 | 1 | a Duncan, A4 aut |
700 | 1 | a Eason, J4 aut |
700 | 1 | a Ellard, S4 aut |
700 | 1 | a Ellis, I4 aut |
700 | 1 | a Elmslie, F4 aut |
700 | 1 | a Evans, K4 aut |
700 | 1 | a Everest, S4 aut |
700 | 1 | a Fendick, T4 aut |
700 | 1 | a Fisher, R4 aut |
700 | 1 | a Flinter, F4 aut |
700 | 1 | a Foulds, N4 aut |
700 | 1 | a Fry, A4 aut |
700 | 1 | a Fryer, A4 aut |
700 | 1 | a Gardiner, C4 aut |
700 | 1 | a Gaunt, L4 aut |
700 | 1 | a Ghali, N4 aut |
700 | 1 | a Gibbons, R4 aut |
700 | 1 | a Gill, H4 aut |
700 | 1 | a Goodship, J4 aut |
700 | 1 | a Goudie, D4 aut |
700 | 1 | a Gray, E4 aut |
700 | 1 | a Green, A4 aut |
700 | 1 | a Greene, P4 aut |
700 | 1 | a Greenhalgh, L4 aut |
700 | 1 | a Gribble, S4 aut |
700 | 1 | a Harrison, R4 aut |
700 | 1 | a Harrison, L4 aut |
700 | 1 | a Harrison, V4 aut |
700 | 1 | a Hawkins, R4 aut |
700 | 1 | a He, L4 aut |
700 | 1 | a Hellens, S4 aut |
700 | 1 | a Henderson, A4 aut |
700 | 1 | a Hewitt, S4 aut |
700 | 1 | a Hildyard, L4 aut |
700 | 1 | a Hobson, E4 aut |
700 | 1 | a Holden, S4 aut |
700 | 1 | a Holder, M4 aut |
700 | 1 | a Holder, S4 aut |
700 | 1 | a Hollingsworth, G4 aut |
700 | 1 | a Homfray, T4 aut |
700 | 1 | a Humphreys, M4 aut |
700 | 1 | a Hurst, J4 aut |
700 | 1 | a Hutton, B4 aut |
700 | 1 | a Ingram, S4 aut |
700 | 1 | a Irving, M4 aut |
700 | 1 | a Islam, L4 aut |
700 | 1 | a Jackson, A4 aut |
700 | 1 | a Jarvis, J4 aut |
700 | 1 | a Jenkins, L4 aut |
700 | 1 | a Johnson, D4 aut |
700 | 1 | a Jones, E4 aut |
700 | 1 | a Josifova, D4 aut |
700 | 1 | a Joss, S4 aut |
700 | 1 | a Kaemba, B4 aut |
700 | 1 | a Kazembe, S4 aut |
700 | 1 | a Kelsell, R4 aut |
700 | 1 | a Kerr, B4 aut |
700 | 1 | a Kingston, H4 aut |
700 | 1 | a Kini, U4 aut |
700 | 1 | a Kinning, E4 aut |
700 | 1 | a Kirby, G4 aut |
700 | 1 | a Kirk, C4 aut |
700 | 1 | a Kivuva, E4 aut |
700 | 1 | a Kraus, A4 aut |
700 | 1 | a Kumar, D4 aut |
700 | 1 | a Kumar, VKA4 aut |
700 | 1 | a Lachlan, K4 aut |
700 | 1 | a Lam, W4 aut |
700 | 1 | a Lampe, A4 aut |
700 | 1 | a Langman, C4 aut |
700 | 1 | a Lees, M4 aut |
700 | 1 | a Lim, D4 aut |
700 | 1 | a Longman, C4 aut |
700 | 1 | a Lowther, G4 aut |
700 | 1 | a Lynch, SA4 aut |
700 | 1 | a Magee, A4 aut |
700 | 1 | a Maher, E4 aut |
700 | 1 | a Male, A4 aut |
700 | 1 | a Mansour, S4 aut |
700 | 1 | a Marks, K4 aut |
700 | 1 | a Martin, K4 aut |
700 | 1 | a Maye, U4 aut |
700 | 1 | a McCann, E4 aut |
700 | 1 | a McConnell, V4 aut |
700 | 1 | a McEntagart, M4 aut |
700 | 1 | a McGowan, R4 aut |
700 | 1 | a Mckay, K4 aut |
700 | 1 | a Mckee, S4 aut |
700 | 1 | a McMullan, DJ4 aut |
700 | 1 | a McNerlan, S4 aut |
700 | 1 | a McWilliam, C4 aut |
700 | 1 | a Mehta, S4 aut |
700 | 1 | a Metcalfe, K4 aut |
700 | 1 | a Middleton, A4 aut |
700 | 1 | a Miedzybrodzka, Z4 aut |
700 | 1 | a Miles, E4 aut |
700 | 1 | a Mohammed, S4 aut |
700 | 1 | a Montgomery, T4 aut |
700 | 1 | a Moore, D4 aut |
700 | 1 | a Morgan, S4 aut |
700 | 1 | a Morton, J4 aut |
700 | 1 | a Mugalaasi, H4 aut |
700 | 1 | a Murday, V4 aut |
700 | 1 | a Murphy, H4 aut |
700 | 1 | a Naik, S4 aut |
700 | 1 | a Nemeth, A4 aut |
700 | 1 | a Nevitt, L4 aut |
700 | 1 | a Newbury-Ecob, R4 aut |
700 | 1 | a Norman, A4 aut |
700 | 1 | a O'Shea, R4 aut |
700 | 1 | a Ogilvie, C4 aut |
700 | 1 | a Ong, KR4 aut |
700 | 1 | a Park, SM4 aut |
700 | 1 | a Parker, MJ4 aut |
700 | 1 | a Patel, C4 aut |
700 | 1 | a Paterson, J4 aut |
700 | 1 | a Payne, S4 aut |
700 | 1 | a Perrett, D4 aut |
700 | 1 | a Phipps, J4 aut |
700 | 1 | a Pilz, DT4 aut |
700 | 1 | a Pollard, M4 aut |
700 | 1 | a Pottinger, C4 aut |
700 | 1 | a Poulton, J4 aut |
700 | 1 | a Pratt, N4 aut |
700 | 1 | a Prescott, K4 aut |
700 | 1 | a Price, S4 aut |
700 | 1 | a Pridham, A4 aut |
700 | 1 | a Procter, A4 aut |
700 | 1 | a Purnell, H4 aut |
700 | 1 | a Quarrell, O4 aut |
700 | 1 | a Ragge, N4 aut |
700 | 1 | a Rahbari, R4 aut |
700 | 1 | a Randall, J4 aut |
700 | 1 | a Rankin, J4 aut |
700 | 1 | a Raymond, L4 aut |
700 | 1 | a Rice, D4 aut |
700 | 1 | a Robert, L4 aut |
700 | 1 | a Roberts, E4 aut |
700 | 1 | a Roberts, J4 aut |
700 | 1 | a Roberts, P4 aut |
700 | 1 | a Roberts, G4 aut |
700 | 1 | a Ross, A4 aut |
700 | 1 | a Rosser, E4 aut |
700 | 1 | a Saggar, A4 aut |
700 | 1 | a Samant, S4 aut |
700 | 1 | a Sampson, J4 aut |
700 | 1 | a Sandford, R4 aut |
700 | 1 | a Sarkar, A4 aut |
700 | 1 | a Schweiger, S4 aut |
700 | 1 | a Scott, R4 aut |
700 | 1 | a Scurr, I4 aut |
700 | 1 | a Selby, A4 aut |
700 | 1 | a Seller, A4 aut |
700 | 1 | a Sequeira, C4 aut |
700 | 1 | a Shannon, N4 aut |
700 | 1 | a Sharif, S4 aut |
700 | 1 | a Shaw-Smith, C4 aut |
700 | 1 | a Shearing, E4 aut |
700 | 1 | a Shears, D4 aut |
700 | 1 | a Sheridan, E4 aut |
700 | 1 | a Simonic, I4 aut |
700 | 1 | a Singzon, R4 aut |
700 | 1 | a Skitt, Z4 aut |
700 | 1 | a Smith, A4 aut |
700 | 1 | a Smith, K4 aut |
700 | 1 | a Smithson, S4 aut |
700 | 1 | a Sneddon, L4 aut |
700 | 1 | a Splitt, M4 aut |
700 | 1 | a Squires, M4 aut |
700 | 1 | a Stewart, F4 aut |
700 | 1 | a Stewart, H4 aut |
700 | 1 | a Straub, V4 aut |
700 | 1 | a Suri, M4 aut |
700 | 1 | a Sutton, V4 aut |
700 | 1 | a Swaminathan, GJ4 aut |
700 | 1 | a Sweeney, E4 aut |
700 | 1 | a Tatton-Brown, K4 aut |
700 | 1 | a Taylor, C4 aut |
700 | 1 | a Taylor, R4 aut |
700 | 1 | a Tein, M4 aut |
700 | 1 | a Temple, IK4 aut |
700 | 1 | a Thomson, J4 aut |
700 | 1 | a Tischkowitz, M4 aut |
700 | 1 | a Tomkins, S4 aut |
700 | 1 | a Torokwa, A4 aut |
700 | 1 | a Treacy, B4 aut |
700 | 1 | a Turner, C4 aut |
700 | 1 | a Turnpenny, P4 aut |
700 | 1 | a Tysoe, C4 aut |
700 | 1 | a Vandersteen, A4 aut |
700 | 1 | a Varghese, V4 aut |
700 | 1 | a Vasudevan, P4 aut |
700 | 1 | a Vijayarangakannan, P4 aut |
700 | 1 | a Vogt, J4 aut |
700 | 1 | a Wakeling, E4 aut |
700 | 1 | a Wallwark, S4 aut |
700 | 1 | a Waters, J4 aut |
700 | 1 | a Weber, A4 aut |
700 | 1 | a Wellesley, D4 aut |
700 | 1 | a Whiteford, M4 aut |
700 | 1 | a Widaa, S4 aut |
700 | 1 | a Wilcox, S4 aut |
700 | 1 | a Wilkinson, E4 aut |
700 | 1 | a Williams, D4 aut |
700 | 1 | a Williams, N4 aut |
700 | 1 | a Wilson, L4 aut |
700 | 1 | a Woods, G4 aut |
700 | 1 | a Wragg, C4 aut |
700 | 1 | a Wright, M4 aut |
700 | 1 | a Yates, L4 aut |
700 | 1 | a Yau, M4 aut |
700 | 1 | a Nellaker, C4 aut |
700 | 1 | a Parker, M4 aut |
700 | 1 | a Firth, HV4 aut |
700 | 1 | a Wright, CF4 aut |
700 | 1 | a FitzPatrick, DR4 aut |
700 | 1 | a Barrett, JC4 aut |
700 | 1 | a Hurles, ME4 aut |
710 | 2 | a Karolinska Institutet4 org |
773 | 0 | t American journal of human geneticsd : Elsevier BVg 104:6, s. 1210-1222q 104:6<1210-1222x 1537-6605x 0002-9297 |
856 | 4 | u http://www.cell.com/article/S000292971930117X/pdf |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:141067079 |
856 | 4 8 | u https://doi.org/10.1016/j.ajhg.2019.03.021 |
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