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Results 1-10 of 36 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, 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.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2019Genomic subtyping and therapeutic targeting of acute erythroleukemiaIacobucci, I.; Wen, J.; Meggendorfer, M.; Choi, J.K.; Shi, L.; Pounds, S.B.; Carmichael, C.L.; Masih, K.E.; Morris, S.M.; Lindsley, R.C.; Janke, L.J.; Alexander, T.B.; Song, G.; Qu, C.; Li, Y.; Payne-Turner, D.; Tomizawa, D.; Kiyokawa, N.; Valentine, M.; Valentine, V.; et al.
2020Genome sequencing in persistently unsolved white matter disordersHelman, G.; Lajoie, B.R.; Crawford, J.; Takanohashi, A.; Walkiewicz, M.; Dolzhenko, E.; Gross, A.M.; Gainullin, V.G.; Bent, S.J.; Jenkinson, E.M.; Ferdinandusse, S.; Waterham, H.R.; Dorboz, I.; Bertini, E.; Miyake, N.; Wolf, N.I.; Abbink, T.E.M.; Kirwin, S.M.; Tan, C.M.; Hobson, G.M.; et al.
2019Characterization of the human myelin oligodendrocyte glycoprotein antibody response in demyelinationTea, F.; Lopez, J.A.; Ramanathan, S.; Merheb, V.; Lee, F.X.Z.; Zou, A.; Pilli, D.; Patrick, E.; van der Walt, A.; Monif, M.; Tantsis, E.M.; Yiu, E.M.; Vucic, S.; Henderson, A.P.D.; Fok, A.; Fraser, C.L.; Lechner-Scott, J.; Reddel, S.W.; Broadley, S.; Barnett, M.H.; et al.
2011Association between common variation at the FTO locus and changes in body mass index from infancy to late childhood: the complex nature of genetic association through growth and developmentSovio, U.; Mook-Kanamori, D.; Warrington, N.; Lawrence, R.; Briollais, L.; Palmer, C.; Cecil, J.; Sandling, J.; Syvanen, A.; Kaakinen, M.; Beilin, L.; Millwood, I.; Bennett, A.; Laitneen, J.; Pouta, A.; Molitor, J.; Smith, G.; Ben-Shlomo, Y.; Jaddoe, V.; Palmer, L.; et al.; Gibson, G.
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, M.; Brooks, S.; Stevenson, R.; Field, M.; Basehore, M.; Adès, L.; Sebold, C.; Mcgee, S.; Saxon, S.; Skinner, C.; Craig, M.; Murray, L.; Simensen, R.; Yap, Y.; Shaw, M.; Gardner, A.; Corbett, M.; Kumar, R.; Bosshard, M.; Van Loon, B.; et al.
2013Identification Of KLHL41 mutations implicates BTB-Kelch-Mediated Ubiquitination as an alternate pathway to myofibrillar disruption in nemaline myopathyGupta, V.; Ravenscroft, G.; Shaheen, R.; Todd, E.; Swanson, L.; Shiina, M.; Ogata, K.; Hsu, C.; Clarke, N.; Darras, B.; Farrar, M.; Hashem, A.; Manton, N.; Muntoni, F.; North, K.; Sandaradura, S.; Nishino, I.; Hayashi, Y.; Sewry, C.; Thompson, E.; et al.
2013Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposityCousminer, D.; Berry, D.; Timpson, N.; Ang, W.; Thiering, E.; Byrne, E.; Taal, H.; Huikari, V.; Bradfield, J.; Kerkhof, M.; Groen-Blokhuis, M.; Kreiner-Møller, E.; Marinelli, M.; Holst, C.; Leinonen, J.; Perry, J.; Surakka, I.; Kettunen, J.; Anttila, V.; Kaakinen, M.; et al.

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