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Results 1-10 of 14 (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.
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.
2016Pachyonychia Congenita: a spectrum of KRT6a mutations in Australian patientsForrest, C.; Casey, G.; Mordaunt, D.; Thompson, E.; Gordon, L.
2016Autosomal dominant hypocalcaemia due to a novel CASR mutation: clinical and genetic implicationsGagliardi, L.; Burt, M.; Feng, J.; Poplawski, N.; Scott, H.
2016Biallelic SUN5 mutations cause autosomal-recessive acephalic spermatozoa syndromeZhu, F.; Wang, F.; Yang, X.; Zhang, J.; Wu, H.; Zhang, Z.; Zhang, Z.; He, X.; Zhou, P.; Wei, Z.; Gecz, J.; Cao, Y.