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Results 21-30 of 34 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2013Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disordersNguyen, L.; Kim, H.; Rosenfeld, J.; Shen, Y.; Gusella, J.; Lacassie, Y.; Layman, L.; Shaffer, L.; Gecz, J.
2017Sharing data to build a medical information commons: from Bermuda to the Global AllianceCook-Deegan, R.; Ankeny, R.A.; Jones, K.M.; Chakravarti, A.; Green, E.D.
2011Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutationsDibbens, L.; Kneen, R.; Bayly, M.; Heron, S.; Arsov, T.; Damiano, J.; Desai, T.; Gibbs, J.; McKenzie, F.; Mulley, J.; Ronan, A.; Scheffer, I.
2016A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shapeRied, J.; Jeff, J.; Chu, A.; Bragg-Gresham, J.; Van Dongen, J.; Huffman, J.; Ahluwalia, T.; Cadby, G.; Eklund, N.; Eriksson, J.; Esko, T.; Feitosa, M.; Goel, A.; Gorski, M.; Hayward, C.; Heard-Costa, N.; Jackson, A.; Jokinen, E.; Kanoni, S.; Kristiansson, K.; et al.
2011Identification of SOX3 as an XX male sex reversal gene in mice and humansSutton, E.; Hughes, J.; White, S.; Sekido, R.; Tan, J.; Arboleda, V.; Rogers, N.; Knower, K.; Rowley, L.; Eyre, H.; Rizzoti, K.; McAninch, D.; Golcalves, J.; Slee, J.; Turbitt, E.; Bruno, D.; Bengtsson, H.; Harley, V.; Vilain, E.; Sinclair, A.; et al.
2014Mitochondrial genome sequencing in mesolithic North East Europe unearths a new sub-clade within the broadly distributed human haplogroup C1Der Sarkissian, C.; Brotherton, P.; Balanovsky, O.; Templeton, J.; Llamas, B.; Soubrier, J.; Moiseyev, V.; Khartanovich, V.; Cooper, A.; Haak, W.; Genographic Consortium,; Achilli, A.
2014AmericaPlex26: a SNaPshot multiplex system for genotyping the main human mitochondrial founder lineages of the AmericasCoutinho, A.; Valverde, G.; Fehren-Schmitz, L.; Cooper, A.; Barreto Romero, M.; Flores Espinoza, I.; Llamas, B.; Haak, W.; Achilli, A.
2017Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesStessman, H.; Xiong, B.; Coe, B.; Wang, T.; Hoekzema, K.; Fenckova, M.; Kvarnung, M.; Gerdts, J.; Trinh, S.; Cosemans, N.; Vives, L.; Lin, J.; Turner, T.; Santen, G.; Ruivenkamp, C.; Kriek, M.; Van Haeringen, A.; Aten, E.; Friend, K.; Liebelt, J.; et al.
2017Mitochondrion to endoplasmic reticulum apposition length in zebrafish embryo spinal progenitors is unchanged in response to perturbations associated with Alzheimer’s diseaseNewman, M.; Halter, L.; Lim, A.; Lardelli, M.; Lakshmana, M.
2017A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repairBrickner, J.; Soll, J.; Lombardi, P.; Vågbø, C.; Mudge, M.; Oyeniran, C.; Rabe, R.; Jackson, J.; Sullender, M.; Blazosky, E.; Byrum, A.; Zhao, Y.; Corbett, M.; Gécz, J.; Field, M.; Vindigni, A.; Slupphaug, G.; Wolberger, C.; Mosammaparast, N.