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Results 1-10 of 22 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016EPHA2 mutations contribute to congenital cataract through diverse mechanismsDave, A.; Martin, S.; Kumar, R.; Craig, J.; Burdon, K.; Sharma, S.
2016Conformational changes in the GM-CSF receptor suggest a molecular mechanism for affinity conversion and receptor signalingBroughton, S.E.; Hercus, T.R.; Nero, T.L.; King-Scott, J.; Lopez, A.F.; Parker, M.W.; Dottore, M.; McClure, B.J.; Dhagat, U.; Taing, H.; Gorman, M.A.
2016TBC1D24 genotype-phenotype correlationBalestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
2016Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARXMoey, C.; Topper, S.; Karn, M.; Johnson, A.; Das, S.; Vidaurre, J.; Shoubridge, C.
2016Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsyRicos, M.G.; Hodgson, B.L.; Pippucci, T.; Saidin, A.; Ong, Y.S.; Heron, S.E.; Licchetta, L.; Bisulli, F.; Bayly, M.A.; Hughes, J.; Baldassari, S.; Palombo, F.; Epilepsy Electroclinical Study Group,; Santucci, M.; Meletti, S.; Berkovic, S.F.; Rubboli, G.; Thomas, P.Q.; Scheffer, I.E.; Tinuper, P.; et al.
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.
2016Chronic myeloid leukemia: reminiscences and dreamsMughal, T.; Radich, J.; Deininger, M.; Apperley, J.; Hughes, T.; Harrison, C.; Gambacorti-Passerini, C.; Saglio, G.; Cortes, J.; Daley, G.
2016Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidismHughes, J.; Aubert, M.; Heatlie, J.; Gardner, A.; Gecz, J.; Morgan, T.; Belsky, J.; Thomas, P.
2016Integrated (epi)-Genomic Analyses Identify Subgroup-Specific Therapeutic Targets in CNS Rhabdoid TumorsTorchia, J.; Golbourn, B.; Feng, S.; Ho, K.C.; Sin-Chan, P.; Vasiljevic, A.; Norman, J.D.; Guilhamon, P.; Garzia, L.; Agamez, N.R.; Lu, M.; Chan, T.S.; Picard, D.; de Antonellis, P.; Khuong-Quang, D.-A.; Planello, A.C.; Zeller, C.; Barsyte-Lovejoy, D.; Lafay-Cousin, L.; Letourneau, L.; et al.
2016The First Histidine Triad Motif of PhtD Is Critical for Zinc Homeostasis in Streptococcus pneumoniaeEijkelkamp, B.; Pederick, V.; Plumptre, C.; Harvey, R.; Hughes, C.; Paton, J.; McDevitt, C.; Camilli, A.