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Jump to: A | B | C | D | H | I | K | L | M | N | O | R | S | T | W
Number of items: 39.

A

Arthurs, OJ; Thayyil, S; Olsen, OE; Addison, S; Wade, A; Jones, R; Norman, W; ... Owens, CM; + view all (2014) Diagnostic accuracy of post-mortem MRI for thoracic abnormalities in fetuses and children. European Radiology , 24 (11) pp. 2876-2884. 10.1007/s00330-014-3313-8. Green open access
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B

Bitner-Glindzicz, M; Rahman, S; Chant, K; Marlow, N; (2014) Gentamicin, genetic variation and deafness in preterm children. BMC Pediatr , 14 (1) , Article 66. 10.1186/1471-2431-14-66. Green open access
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C

Chitty, LS; Finning, K; Wade, A; Soothill, P; Martin, B; Oxenford, K; Daniels, G; (2014) Diagnostic accuracy of routine antenatal determination of fetal RHD status across gestation: population based cohort study. BMJ , 349 , Article g5243. 10.1136/bmj.g5243. Green open access
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Christiansen, MT; Brown, AC; Kundu, S; Tutill, HJ; Williams, R; Brown, JR; Holdstock, J; ... Breuer, J; + view all (2014) Whole-genome enrichment and sequencing of Chlamydia trachomatis directly from clinical samples. BMC Infect Dis , 14 (1) , Article 591. 10.1186/s12879-014-0591-3. Green open access
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D

David, AL; Holloway, A; Thomasson, L; Syngelaki, A; Nicolaides, K; Patel, RR; Sommerlad, B; ... Chitty, LS; + view all (2014) A case-control study of maternal periconceptual and pregnancy recreational drug use and fetal malformation using hair analysis. PLoS One , 9 (10) , Article e111038 . 10.1371/journal.pone.0111038. Green open access
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Demetriou, C; Abu-Amero, S; Thomas, AC; Ishida, M; Aggarwal, R; Al-Olabi, L; Leon, LJ; ... Moore, GE; + view all (2014) Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight. PLoS One , 9 (1) , Article e85454. 10.1371/journal.pone.0085454. Green open access
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Du, Z; Munye, MM; Tagalakis, AD; Manunta, MD; Hart, SL; (2014) The role of the helper lipid on the DNA transfection efficiency of lipopolyplex formulations. Sci Rep , 4 7107 - ?. 10.1038/srep07107. Green open access
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Dunn, L; Allen, GF; Mamais, A; Ling, H; Li, A; Duberley, KE; Hargreaves, IP; ... Bandopadhyay, R; + view all (2014) Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease. Neurobiol Aging , 35 (5) pp. 1111-1115. 10.1016/j.neurobiolaging.2013.11.001. Green open access
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H

Hanley, JE; (2014) The use of matrix attachment regions to enhance the in-vivo potency of rAAV vectors. Doctoral thesis , UCL (University College London). Green open access
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Hart, SL; (2014) Cystic fibrosis findings. International Innovation (131) pp. 78-80. Green open access
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Hill, M; Suri, R; Nash, E; Morris, S; Chitty, L; (2014) Preferences for Prenatal Tests for Cystic Fibrosis: A Discrete Choice Experiment to Compare the Views of Adult Patients, Carriers of Cystic Fibrosis and Health Professionals. Journal of Clinical Medicine , 3 (1) 176 - 190. 10.3390/jcm3010176. Green open access
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Hill, M; Wright, D; Daley, R; Lewis, C; McKay, F; Mason, S; Lench, N; ... Chitty, LS; + view all (2014) Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol. BMC Pregnancy Childbirth , 14 (1) , Article 229. 10.1186/1471-2393-14-229. Green open access
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Hjeij, R; Onoufriadis, A; Watson, CM; Slagle, CE; Klena, NT; Dougherty, GW; Kurkowiak, M; ... Mitchison, HM; + view all (2014) CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. Am J Hum Genet , 95 (3) 257 - 274. 10.1016/j.ajhg.2014.08.005. Green open access
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I

Issler, N; (2014) Clinical, genetic and molecular studies into hereditary renal tubular proteinuria. Doctoral thesis , UCL (University College London).

K

Kalliolia, E; Silajdžić, E; Nambron, R; Hill, NR; Doshi, A; Frost, C; Watt, H; ... Warner, TT; + view all (2014) Plasma melatonin is reduced in Huntington's disease. Movement Disorders 10.1002/mds.26003. Green open access
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Kanabus, M; Heales, SJ; Rahman, S; (2014) Development of Pharmacological Strategies for Mitochondrial Disorders. Br J Pharmacol , 171 (8) pp. 1798-1817. 10.1111/bph.12456. Green open access
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Karda, R; Buckley, SM; Mattar, CN; Ng, J; Massaro, G; Hughes, MP; Kurian, MA; ... Rahim, AA; + view all (2014) Perinatal systemic gene delivery using adeno-associated viral vectors. Front Mol Neurosci , 7 , Article 89. 10.3389/fnmol.2014.00089. Green open access
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Kelberman, D; Islam, L; Lakowski, J; Bacchelli, C; Chanudet, E; Lescai, F; Patel, A; ... Sowden, JC; + view all (2014) Mutation of SALL2 causes recessive ocular coloboma in humans and mice. Hum Mol Genet , 23 (10) pp. 2511-2526. 10.1093/hmg/ddt643. Green open access
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Kinsler, VA; Krengel, S; Riviere, JB; Waelchli, R; Chapusot, C; Al-Olabi, L; Faivre, L; ... Vabres, P; + view all (2014) Next Generation Sequencing of Nevus Spilus-Type Congenital Melanocytic Nevus: Exquisite Genotype-Phenotype Correlation in Mosaic RASopathies. [Letter]. J Invest Dermatol , 134 pp. 2658-2660. 10.1038/jid.2014.195. Green open access
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Knowles, RL; Khalid, JM; Oerton, JM; Hindmarsh, PC; Kelnar, CJ; Dezateux, C; (2014) Late clinical presentation of congenital adrenal hyperplasia in older children: findings from national paediatric surveillance. Archives of Disease in Childhood , 99 (1) pp. 30-34. 10.1136/archdischild-2012-303070. Green open access
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Kristiansen, M; Ham, J; (2014) Programmed cell death during neuronal development: the sympathetic neuron model. Cell Death Differ , 21 (7) pp. 1025-1035. 10.1038/cdd.2014.47. Green open access
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L

Lo, KK; Boustred, C; Chitty, LS; Plagnol, V; (2014) RAPIDR: an analysis package for non-invasive prenatal testing of aneuploidy. Bioinformatics , 30 (20) pp. 2965-2967. 10.1093/bioinformatics/btu419. Green open access
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Lucas, JS; Burgess, A; Mitchison, HM; Moya, E; Williamson, M; Hogg, C; National PCD Service, UK, .; (2014) Diagnosis and management of primary ciliary dyskinesia. Arch Dis Child , 99 (9) 850 - 856. 10.1136/archdischild-2013-304831. Green open access
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M

Meyer, R; De Koker, C; Dziubak, R; Godwin, H; Dominguez-Ortega, G; Shah, N; (2014) Dietary elimination of children with food protein induced gastrointestinal allergy – micronutrient adequacy with and without a hypoallergenic formula? Clinical and Translational Allergy , 4 (1) , Article 31. 10.1186/2045-7022-4-31. Green open access
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Mills, PB; Camuzeaux, SS; Footitt, EJ; Mills, KA; Gissen, P; Fisher, L; Das, KB; ... Clayton, PT; + view all (2014) Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain , 137 (5) pp. 1350-1360. 10.1093/brain/awu051. Green open access
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Morris, S; Karlsen, S; Chung, N; Hill, M; Chitty, LS; (2014) Model-Based Analysis of Costs and Outcomes of Non-Invasive Prenatal Testing for Down's Syndrome Using Cell Free Fetal DNA in the UK National Health Service. PLoS One , 9 (4) , Article e93559. 10.1371/journal.pone.0093559. Green open access
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Murdoch, JN; Damrau, C; Paudyal, A; Bogani, D; Wells, S; Greene, ND; Stanier, P; (2014) Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice. Dis Model Mech , 7 (10) 1153 - 1163. 10.1242/dmm.016758. Green open access
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N

Nessa, A; (2014) Understanding the molecular basis of Congenital Hyperinsulinism due to autosomal dominant ABCC8 and KCNJ11 mutations. Doctoral thesis , UCL (University College London).

Ng, J; Heales, SJ; Kurian, MA; (2014) Clinical Features and Pharmacotherapy of Childhood Monoamine Neurotransmitter Disorders. Pediatric Drugs , 16 (4) pp. 275-291. 10.1007/s40272-014-0079-z. Green open access
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O

Onoufriadis, A; Shoemark, A; Schmidts, M; Patel, M; Jimenez, G; Liu, H; Thomas, B; ... Mitchison, HM; + view all (2014) Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central-pair agenesis due to radial spoke defects. Hum Mol Genet , 23 (13) pp. 3362-3374. 10.1093/hmg/ddu046. Green open access
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R

Ripoll, VM; Lambrianides, A; Pierangeli, SS; Poulton, K; Ioannou, Y; Heywood, WE; Mills, K; ... Giles, IP; + view all (2014) Changes in regulation of human monocyte proteins in response to IgG from patients with antiphospholipid syndrome. Blood 10.1182/blood-2014-05-577569. Green open access
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S

Simpkin, A; Cochran, E; Cameron, F; Dattani, M; de Bock, M; Dunger, DB; Forsander, G; ... Bockenhauer, D; + view all (2014) Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations. Nephron Physiology , 128 (3-4) 10.1159/000366225. Green open access
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Subbarayan, A; Dattani, MT; Peters, CJ; Hindmarsh, PC; (2014) Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Clinical Endocrinology , 80 (4) 471 - 477. 10.1111/cen.12265. Green open access
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Sundaram, V; (2014) Gene therapy for inherited retinal diseases. Doctoral thesis , UCL (University College London). Green open access
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T

Tagalakis, AD; Kenny, GD; Bienemann, AS; McCarthy, D; Munye, MM; Taylor, H; Wyatt, ML; ... Hart, SL; + view all (2014) PEGylation improves the receptor-mediated transfection efficiency of peptide-targeted, self-assembling, anionic nanocomplexes. J Control Release , 174 pp. 177-187. 10.1016/j.jconrel.2013.11.014. Green open access
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Tagalakis, AD; Lee, DH; Bienemann, AS; Zhou, H; Munye, MM; Saraiva, L; McCarthy, D; ... Hart, SL; + view all (2014) Multifunctional, self-assembling anionic peptide-lipid nanocomplexes for targeted siRNA delivery. Biomaterials , 35 (29) pp. 8406-8415. 10.1016/j.biomaterials.2014.06.003. Green open access
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Theofilopoulos, S; Griffiths, WJ; Crick, PJ; Yang, S; Meljon, A; Ogundare, M; Kitambi, SS; ... Wang, Y; + view all (2014) Cholestenoic acids regulate motor neuron survival via liver X receptors. Journal of Clinical Investigation , 124 (11) pp. 4829-4842. 10.1172/JCI68506. Green open access
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Thomas, AC; Williams, H; Seto-Salvia, N; Bacchelli, C; Jenkins, D; O'Sullivan, M; Mengrelis, K; ... Stanier, PM; + view all (2014) Mutations in SNX14 cause a distinctive autosomal recessive cerebellar ataxia and intellectual disability syndrome. The American Journal of Human Genetics , 95 (5) pp. 611-621. 10.1016/j.ajhg.2014.10.007. Green open access
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W

Waelchli, R; Aylett, SE; Robinson, K; Chong, WK; Martinez, AE; Kinsler, VA; (2014) New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. British Journal of Dermatology , 171 (4) 861 - 867. 10.1111/bjd.13203. Green open access
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This list was generated on Mon Apr 12 02:09:44 2021 BST.