Michael Buckley

Michael Buckley

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Michael Buckley

Michael Buckley

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A case study of vertebral fusion in a 19-century horse from Serbia.

Int J Paleopathol 2019 12 21;27:17-23. Epub 2019 Sep 21.

Manchester Institute of Biotechnology, School of Earth and Environmental Sciences, The University of Manchester, 131 Princess Street, Manchester, M1 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ijpp.2019.07.007DOI Listing
December 2019

The Practice of Pharmaceutics and the Obligation to Expand Access to Investigational Drugs.

J Med Philos 2019 Dec 30. Epub 2019 Dec 30.

Lehman College, City University of New York, Bronx, New York, USA.

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http://dx.doi.org/10.1093/jmp/jhz038DOI Listing
December 2019

Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.

Am J Med Genet A 2019 Oct 19;179(10):2152-2157. Epub 2019 Jul 19.

Neuroscience Research Australia (NeuRA), Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1002/ajmg.a.61295DOI Listing
October 2019

Preserved collagen reveals species identity in archaeological marine turtle bones from Caribbean and Florida sites.

R Soc Open Sci 2019 Oct 30;6(10):191137. Epub 2019 Oct 30.

Manchester Institute of Biotechnology, School of Earth and Environmental Sciences, University of Manchester, 131 Princess Street, Manchester M1 7DN, UK.

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http://dx.doi.org/10.1098/rsos.191137DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837194PMC
October 2019

Collagen sequence analysis of fossil camels, Camelops and c.f. Paracamelus, from the Arctic and sub-Arctic of Plio-Pleistocene North America.

J Proteomics 2019 03 22;194:218-225. Epub 2018 Nov 22.

Department of Biology & Department of Earth Sciences, Carleton University, 1125 Colonel By Dr, Ottawa, ON K1S 5B6, Canada.

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http://dx.doi.org/10.1016/j.jprot.2018.11.014DOI Listing
March 2019

Metabarcoding to investigate changes in soil microbial communities within forensic burial contexts.

Forensic Sci Int Genet 2019 03 12;39:73-85. Epub 2018 Dec 12.

Manchester Institute of Biotechnology, The University of Manchester, 131 Princess Street, Manchester, M1 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.fsigen.2018.12.002DOI Listing
March 2019

Stable Frank-Kasper phases of self-assembled, soft matter spheres.

Proc Natl Acad Sci U S A 2018 10 24;115(41):10233-10238. Epub 2018 Sep 24.

Department of Polymer Science and Engineering, University of Massachusetts, Amherst, MA 01003;

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http://dx.doi.org/10.1073/pnas.1809655115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6187128PMC
October 2018

Collagen Fingerprinting and the Earliest Marine Mammal Hunting in North America.

Sci Rep 2018 07 3;8(1):10014. Epub 2018 Jul 3.

School and Earth and Environmental Sciences, Manchester Institute of Biotechnology, 131 Princess Street, University of Manchester, Manchester, M1 7DN, UK.

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http://dx.doi.org/10.1038/s41598-018-28224-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6030183PMC
July 2018

Semi-supervised machine learning for automated species identification by collagen peptide mass fingerprinting.

BMC Bioinformatics 2018 06 26;19(1):241. Epub 2018 Jun 26.

Manchester Institute of Biotechnology, School of Earth and Environmental Sciences, The University of Manchester, 131 Princess Street, Manchester, M1 7DN, UK.

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http://dx.doi.org/10.1186/s12859-018-2221-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6019507PMC
June 2018

Atypical Skin Manifestations in -Related Craniosynostosis Syndromes Broaden the Phenotypic Spectrum.

Mol Syndromol 2018 May 24;9(3):149-153. Epub 2018 Apr 24.

Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital/SA Pathology, SA, Australia.

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http://dx.doi.org/10.1159/000488439DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6006653PMC
May 2018

Forensic proteomics for the evaluation of the post-mortem decay in bones.

J Proteomics 2018 04 31;177:21-30. Epub 2018 Jan 31.

Manchester Institute of Biotechnology, The University of Manchester, 131 Princess Street, Manchester, M1 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2018.01.016DOI Listing
April 2018

Exploring Biological and Geological Age-related Changes through Variations in Intra- and Intertooth Proteomes of Ancient Dentine.

J Proteome Res 2018 03 16;17(3):1000-1013. Epub 2018 Feb 16.

Manchester Institute of Biotechnology, The University of Manchester , 131 Princess Street, Manchester M1 7DN, United Kingdom.

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http://dx.doi.org/10.1021/acs.jproteome.7b00648DOI Listing
March 2018

Long-term ecological changes in marine mammals driven by recent warming in northwestern Alaska.

Glob Chang Biol 2018 Jan 23;24(1):490-503. Epub 2017 Sep 23.

Department of Archaeology, Simon Fraser University, Burnaby, BC, Canada.

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http://dx.doi.org/10.1111/gcb.13880DOI Listing
January 2018

Characterization of Proteomes Extracted through Collagen-based Stable Isotope and Radiocarbon Dating Methods.

J Proteome Res 2018 01 13;17(1):429-439. Epub 2017 Nov 13.

Manchester Institute of Biotechnology, The University of Manchester , 131 Princess Street, Manchester M1 7DN, United Kingdom.

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http://dx.doi.org/10.1021/acs.jproteome.7b00624DOI Listing
January 2018

Successive bacterial colonisation of pork and its implications for forensic investigations.

Forensic Sci Int 2017 Dec 20;281:1-8. Epub 2017 Oct 20.

School of Applied Sciences, University of Huddersfield, Queensgate, Huddersfield HD1 3DH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.forsciint.2017.10.025DOI Listing
December 2017

Direct dating of Neanderthal remains from the site of Vindija Cave and implications for the Middle to Upper Paleolithic transition.

Proc Natl Acad Sci U S A 2017 10 5;114(40):10606-10611. Epub 2017 Sep 5.

Oxford Radiocarbon Accelerator Unit, Research Laboratory for Archaeology and the History of Art, University of Oxford, Oxford OX1 3QY, United Kingdom.

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http://dx.doi.org/10.1073/pnas.1709235114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5635904PMC
October 2017

Intra- and Interskeletal Proteome Variations in Fresh and Buried Bones.

J Proteome Res 2017 05 24;16(5):2016-2029. Epub 2017 Apr 24.

School of Earth and Environmental Sciences, The University of Manchester, Manchester Institute of Biotechnology , 131 Princess Street, Manchester, M1 7DN, United Kingdom.

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http://dx.doi.org/10.1021/acs.jproteome.6b01070DOI Listing
May 2017

A fossil protein chimera; difficulties in discriminating dinosaur peptide sequences from modern cross-contamination.

Proc Biol Sci 2017 May;284(1855)

School of Earth and Environmental Sciences, Faculty of Science and Engineering, Interdisciplinary Centre for Ancient Life, The University of Manchester, Manchester, M13 9PL, UK.

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http://dx.doi.org/10.1098/rspb.2017.0544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5454271PMC
May 2017

Effect of prenatal DHA supplementation on the infant epigenome: results from a randomized controlled trial.

Clin Epigenetics 2016 4;8:114. Epub 2016 Nov 4.

FOODplus Research Centre, School of Agriculture Food and Wine, The University of Adelaide, Adelaide, South Australia 5064 Australia ; Child Nutrition Research Centre, South Australian Health and Medical Research Institute Adelaide, Adelaide, South Australia 5006 Australia.

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http://dx.doi.org/10.1186/s13148-016-0281-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5096291PMC
April 2017

Comparing ancient DNA survival and proteome content in 69 archaeological cattle tooth and bone samples from multiple European sites.

J Proteomics 2017 03 14;158:1-8. Epub 2017 Jan 14.

Manchester Institute of Biotechnology, The University of Manchester, Manchester M1 7DN, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jprot.2017.01.004DOI Listing
March 2017

Minimizing Laboratory-Induced Decay in Bone Proteomics.

J Proteome Res 2017 02 7;16(2):447-458. Epub 2016 Dec 7.

Manchester Institute of Biotechnology, The University of Manchester , 131 Princess Street, Manchester M1 7DN, U.K.

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http://dx.doi.org/10.1021/acs.jproteome.6b00564DOI Listing
February 2017

Comprehensive Proteomic Profiling of Wheat Gluten Using a Combination of Data-Independent and Data-Dependent Acquisition.

Front Plant Sci 2016 10;7:2020. Epub 2017 Jan 10.

Faculty of Biology, Medicine and Health, Infection, Immunity and Respiratory Medicine, Manchester Academic Health Sciences Centre, Manchester Institute of Biotechnology, University of Manchester Manchester, UK.

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http://dx.doi.org/10.3389/fpls.2016.02020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5223596PMC
January 2017

Collagen Fingerprinting: A New Screening Technique for Radiocarbon Dating Ancient Bone.

PLoS One 2016 3;11(3):e0150650. Epub 2016 Mar 3.

Faculty of Life Sciences, The University of Manchester, Manchester M13 9PL, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0150650PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4777535PMC
August 2016

Novel motor phenotypes in patients with VRK1 mutations without pontocerebellar hypoplasia.

Neurology 2016 Jul 8;87(1):65-70. Epub 2016 Jun 8.

From the Molecular Medicine Laboratory (M.S., G.N.), Neurology Department (J.L.), ANZAC Research Institute (G.N.), and NSW Health Pathology (G.N.), Concord Hospital (S.R.); Departments of Neurology (H.T., H.S., M.F.) and Genetics (T.R.), Sydney Children's Hospital; Discipline of Paediatrics, School of Women's and Children's Health, UNSW Medicine (H.T., H.S., M.F.), and St Vincent's Clinical School (T.R.), The University of New South Wales, Sydney; Kolling Institute (Y.Z.), Royal North Shore Hospital, Newcastle GOLD Service, Hunter Genetics, Waratah; SEALS Haematology and Genetics Laboratory (M.B.), Prince of Wales Hospital, Sydney; Kinghorn Centre for Clinical Genomics (T.R.); and Sydney Medical School (G.N.), University of Sydney, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000002813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4932233PMC
July 2016

Collagen Sequence Analysis of the Extinct Giant Ground Sloths Lestodon and Megatherium.

PLoS One 2015 5;10(11):e0139611. Epub 2015 Nov 5.

Instituto Superior de Estudios Sociales-CONICET, Instituto de Arqueología y Museo-UNT, Tucumán Province, Argentina.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0139611PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4634953PMC
June 2016

Unexpected features of the dark proteome.

Proc Natl Acad Sci U S A 2015 Dec 17;112(52):15898-903. Epub 2015 Nov 17.

Commonwealth Scientific and Industrial Research Organisation (CSIRO), Sydney, NSW 1670, Australia; Genomics and Epigenetics Division, Garvan Institute of Medical Research, Sydney, NSW 2010, Australia; School of Molecular Bioscience, The University of Sydney, Sydney, NSW 2006, Australia

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http://www.pnas.org/content/112/52/15898.full.pdf
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http://www.pnas.org/lookup/doi/10.1073/pnas.1508380112
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http://dx.doi.org/10.1073/pnas.1508380112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702990PMC
December 2015

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.

Mol Genet Metab 2015 Nov 14;116(3):178-86. Epub 2015 Aug 14.

Sydney Children's Hospital, High Street Randwick NSW 2031, Australia; University of New South Wales, High Street, Sydney, NSW 2052, Australia; Seals Molecular Genetics, POW Hospital Campus, Barker Street, Randwick, Sydney, NSW 2031, Australia. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192153004
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http://dx.doi.org/10.1016/j.ymgme.2015.08.007DOI Listing
November 2015

Coherence analysis discriminates between retroviral integration patterns in CD34(+) cells transduced under differing clinical trial conditions.

Mol Ther Methods Clin Dev 2015 29;2:15015. Epub 2015 Apr 29.

Gene Therapy Research Unit, Children's Medical Research Institute and The Children's Hospital at Westmead , Westmead, Australia ; The University of Sydney, Discipline of Paediatrics and Child Health , Westmead, Australia.

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http://dx.doi.org/10.1038/mtm.2015.15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4445430PMC
June 2015

Ancient collagen reveals evolutionary history of the endemic South American 'ungulates'.

Authors:
Michael Buckley

Proc Biol Sci 2015 05;282(1806):20142671

Faculty of Life Sciences, Manchester Institute of Biotechnology, 131 Princess Street, Manchester M1 7DN, UK

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http://dx.doi.org/10.1098/rspb.2014.2671DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4426609PMC
May 2015

De novo identification of differentially methylated regions in the human genome.

Epigenetics Chromatin 2015 27;8. Epub 2015 Jan 27.

CSIRO Food and Nutrition Flagship, Riverside Life Sciences Centre, 11 Julius Avenue, Sydney, Australia.

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http://dx.doi.org/10.1186/1756-8935-8-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4429355PMC
May 2015

Association between specific mucosa-associated microbiota in Crohn's disease at the time of resection and subsequent disease recurrence: a pilot study.

J Gastroenterol Hepatol 2015 Feb;30(2):268-78

Department of Gastroenterology, St Vincent's Hospital, Melbourne, Victoria, Australia; Department of Medicine, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1111/jgh.12694DOI Listing
February 2015

Targeted amplification of delivery to cell surface receptors by dendrimer self-assembly.

Bioorg Med Chem Lett 2014 Mar 31;24(5):1290-3. Epub 2014 Jan 31.

Department of Chemistry, New York University, New York, NY 10003, USA; Cancer Institute, New York University School of Medicine, 550 First Avenue, New York, NY 10016, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bmcl.2014.01.063DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5090713PMC
March 2014

An association between the PTGS2 rs5275 polymorphism and colorectal cancer risk in families with inherited non-syndromic predisposition.

Eur J Hum Genet 2013 Dec 27;21(12):1389-95. Epub 2013 Mar 27.

1] CSIRO, Preventative Health National Research Flagship, North Ryde, NSW, Australia [2] Animal, Food and Health Sciences, CSIRO, North Ryde, NSW, Australia.

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http://dx.doi.org/10.1038/ejhg.2013.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3831072PMC
December 2013

Impact of ethnicity, geography, and disease on the microbiota in health and inflammatory bowel disease.

Inflamm Bowel Dis 2013 Dec;19(13):2906-18

1Department of Gastroenterology, St Vincent's Hospital Melbourne, Australia; 2Department of Medicine, The University of Melbourne, Parkville, Australia; 3Preventative Health National Research Flagship Program, Commonwealth Scientific and Industrial Research Organisation (CSIRO), Australia; 4Enteric Virus Group, Murdoch Childrens Research Institute, Parkville, Australia; 5Department of Gastroenterology, West China Hospital, Sichuan University, Chengdu, China; 6Department of Gastroenterology, Zhongnan Hospital, Wuhan University School of Medicine, Wuhan, China; 7Department of Gastroenterology, Box Hill Hospital, Melbourne, Australia; 8Department of Medicine and Therapeutics, Li Ka Shing Institute of Health Sciences, the Chinese University of Hong Kong, Hong Kong, China; 9The Ohio State University, Columbus, Ohio; 10Department of Microbiology, La Trobe University, Bundoora, Australia; and 11Department of Immunology, Imperial College, London, United Kingdom.

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http://dx.doi.org/10.1097/01.MIB.0000435759.05577.12DOI Listing
December 2013

Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.

Mol Genet Genomic Med 2013 Nov 19;1(4):223-37. Epub 2013 Aug 19.

Center for Molecular Medicine Cologne (CMMC), University of Cologne 50931, Cologne, Germany ; Institute of Human Genetics, University of Cologne 50931, Cologne, Germany ; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne 50931, Cologne, Germany.

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http://dx.doi.org/10.1002/mgg3.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865590PMC
November 2013

A molecular phylogeny of Plesiorycteropus reassigns the extinct mammalian order 'Bibymalagasia'.

Authors:
Michael Buckley

PLoS One 2013 26;8(3):e59614. Epub 2013 Mar 26.

Computational and Evolutionary Biology, Faculty of Life Sciences, Manchester Institute of Biotechnology, Manchester, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0059614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3608660PMC
September 2013

Identification of collagen-based materials in cultural heritage.

Analyst 2013 Sep 28;138(17):4849-58. Epub 2013 Jun 28.

Straus Center for Conservation, Harvard Art Museums, 32 Quincy Street, Cambridge, MA 02138, USA.

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http://dx.doi.org/10.1039/c3an00925dDOI Listing
September 2013

Improved moderation for gene-wise variance estimation in RNA-Seq via the exploitation of external information.

BMC Genomics 2013 21;14 Suppl 1:S9. Epub 2013 Jan 21.

School of Mathematics and Statistics, University of Sydney, Sydney NSW 2006, Australia.

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http://dx.doi.org/10.1186/1471-2164-14-S1-S9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3549800PMC
August 2013

Evolving experience using kidneys from deceased donors with terminal acute kidney injury.

J Am Coll Surg 2013 Apr 6;216(4):645-55; discussion 655-6. Epub 2013 Feb 6.

Department of General Surgery, Section of Transplantation, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.

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http://dx.doi.org/10.1016/j.jamcollsurg.2012.12.020DOI Listing
April 2013

Novel systems for dynamically assessing insulin action in live cells reveals heterogeneity in the insulin response.

Traffic 2013 Mar 18;14(3):259-73. Epub 2013 Jan 18.

Diabetes and Obesity Research Program, The Garvan Institute of Medical Research, Sydney, NSW, 2010, Australia.

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http://doi.wiley.com/10.1111/tra.12035
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http://dx.doi.org/10.1111/tra.12035DOI Listing
March 2013

Proteomics analysis of ancient food vessel stitching reveals >4000-year-old milk protein.

Rapid Commun Mass Spectrom 2013 Feb;27(4):531-8

Manchester Institute of Biotechnology, Faculty of Life Sciences, University of Manchester, Manchester, UK.

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http://dx.doi.org/10.1002/rcm.6481DOI Listing
February 2013

Estimation of data-specific constitutive exons with RNA-Seq data.

BMC Bioinformatics 2013 Jan 29;14:31. Epub 2013 Jan 29.

School of Mathematics and Statistics, University of Sydney, Sydney NSW 2006, Australia.

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http://dx.doi.org/10.1186/1471-2105-14-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656776PMC
January 2013

Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3 (LRIT3) is a modulator of FGFR1.

FEBS Lett 2012 May 20;586(10):1516-21. Epub 2012 Apr 20.

Section of Genetics, Department of Pediatrics, University of California Davis Medical Center, Sacramento, CA 95817, USA.

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http://dx.doi.org/10.1016/j.febslet.2012.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3372856PMC
May 2012

Quantitative proteomic analysis of the adipocyte plasma membrane.

J Proteome Res 2011 Nov 18;10(11):4970-82. Epub 2011 Oct 18.

Diabetes and Obesity Program, Garvan Institute of Medical Research , Sydney, NSW 2010, Australia.

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http://dx.doi.org/10.1021/pr200446rDOI Listing
November 2011

An Australian tuberous sclerosis cohort: are surveillance guidelines being met?

J Paediatr Child Health 2011 Oct 30;47(10):711-6. Epub 2011 Mar 30.

The Tuberous Sclerosis Multidisciplinary Management Clinic, Sydney Children's Hospital, Randwick, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2011.02038.xDOI Listing
October 2011

Continuous thoracic paravertebral nerve block in a working anesthesia resident-when opioids are not an option.

Mil Med 2011 May;176(5):578-80

Army Regional Anesthesia & Pain Management Initiative, Anesthesia & Operative Service, Walter Reed Army Medical Center, Building 2, Ward 44, Room 4418, Washington, DC 20307-5001, USA.

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http://dx.doi.org/10.7205/milmed-d-10-00413DOI Listing
May 2011

A comparison of molecular and cytogenetic techniques for the diagnosis of pregnancy loss.

Genet Med 2011 Jan;13(1):46-51

Department of Haematology and Genetics, South Eastern Area Laboratory Services, The Prince of Wales and Sydney Children's hospitals, Randwick, Sydney, Australia.

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http://dx.doi.org/10.1097/GIM.0b013e3181faa0d2DOI Listing
January 2011

Strengthening physician-nurse partnerships to improve quality and patient safety.

Physician Exec 2009 Nov-Dec;35(6):24-8

Pennsylvania Hospital, USA.

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November 2010

Adhesive use in oral and maxillofacial surgery.

Oral Maxillofac Surg Clin North Am 2010 Feb;22(1):195-9

University of Pittsburgh School of Dental Medicine, 3501 Terrace Street, Pittsburgh, PA 15213, USA.

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http://dx.doi.org/10.1016/j.coms.2009.10.008DOI Listing
February 2010

Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy.

PLoS One 2010 Jan 20;5(1):e8803. Epub 2010 Jan 20.

Molecular and Cytogenetics Unit, Department of Haematology and Genetics, Prince of Wales Hospital, Randwick, Sydney, New South Wales, Australia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0008803PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808359PMC
January 2010

Species identification by analysis of bone collagen using matrix-assisted laser desorption/ionisation time-of-flight mass spectrometry.

Rapid Commun Mass Spectrom 2009 Dec;23(23):3843-54

Department of Biology, University of York, Heslington, York YO10 5YW, UK.

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http://doi.wiley.com/10.1002/rcm.4316
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http://dx.doi.org/10.1002/rcm.4316DOI Listing
December 2009

Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.

Clin Dysmorphol 2008 Jul;17(3):223-4

Sydney South West Genetic Service, SEALS Molecular and Cytogenetics Laboratory, Sydney, NSW, Australia.

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http://dx.doi.org/10.1097/MCD.0b013e3282fdcc86DOI Listing
July 2008