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science & technology (19) 19
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animals (11) 11
genomics (10) 10
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molecular sequence data (7) 7
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histone-lysine n-methyltransferase - genetics (2) 2
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1. Full Text The EMBL-EBI search and sequence analysis tools APIs in 2019
by Madeira, Fabio and Park, Young Mi and Lee, Joon and Buso, Nicola and Gur, Tamer and Madhusoodanan, Nandana and Basutkar, Prasad and Tivey, Adrian R. N and Potter, Simon C and Finn, Robert D and Lopez, Rodrigo
Nucleic acids research, ISSN 0305-1048, 07/2019, Volume 47, Issue W1, pp. W636 - W641
Life Sciences & Biomedicine | Biochemistry & Molecular Biology | Science & Technology | Sequence Analysis, Protein | Sequence Alignment | Software | Sequence Analysis | Databases, Nucleic Acid | Databases, Protein | Index Medicus | Web Server Issue
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2. Full Text Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
by Wright, Caroline F, Dr and Fitzgerald, Tomas W, MS and Jones, Wendy D, MBBS and Clayton, Stephen, MRes and McRae, Jeremy F, PhD and van Kogelenberg, Margriet, PhD and King, Daniel A, MD and Ambridge, Kirsty, BSc and Barrett, Daniel M, BSc and Bayzetinova, Tanya, BSc and Bevan, A Paul, PhD and Bragin, Eugene, MSc and Chatzimichali, Eleni A, PhD and Gribble, Susan, PhD and Jones, Philip, MSc and Krishnappa, Netravathi, MSc and Mason, Laura E, BSc and Miller, Ray, PhD and Morley, Katherine I, PhD and Parthiban, Vijaya, PhD and Prigmore, Elena, PhD and Rajan, Diana, MSc and Sifrim, Alejandro, PhD and Swaminathan, G Jawahar, PhD and Tivey, Adrian R, MSc and Middleton, Anna, PhD and Parker, Michael, Prof and Carter, Nigel P, PhD and Barrett, Jeffrey C, PhD and Hurles, Matthew E, PhD and FitzPatrick, David R, Prof and Firth, Helen V, DM and on behalf of the DDD study and DDD Study and DDD study
The Lancet (British edition), ISSN 0140-6736, 2015, Volume 385, Issue 9975, pp. 1305 - 1314
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Humans | Child, Preschool | Incidental Findings | Infant | Male | Developmental Disabilities - genetics | Genome, Human - genetics | Information Dissemination | Specimen Handling | Phenotype | Adolescent | Female | Heterozygote | Genetic Variation - genetics | Genome-Wide Association Study - methods | Child | Developmental Disabilities - diagnosis | Infant, Newborn | Medical research | Analysis | Genomics | Medicine, Experimental | Genetic research | Genomes | Nucleotide sequencing | DNA sequencing | Mutation | Medical diagnosis | Genes | Developmental disabilities | Index Medicus | Abridged Index Medicus
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3. Full Text The genome of the blood fluke Schistosoma mansoni
by Berriman, Matthew and Haas, Brian J and Loverde, Philip T and Wilson, R. Alan and Dillon, Gary P and Cerqueira, Gustavo C and Mashiyama, Susan T and Al-Lazikani, Bissan and Andrade, Luiza F and Ashton, Peter D and Aslett, Martin A and Bartholomeu, Daniella C and Blandin, Gaelle and Caffrey, Conor R and Coghlan, Avril and Coulson, Richard and Day, Tim A and Delcher, Art and Demarco, Ricardo and Djikeng, Appolinaire and Eyre, Tina and Gamble, John A and Ghedin, Elodie and Gu, Yong and Hertz-Fowler, Christiane and Hirai, Hirohisha and Hirai, Yuriko and Houston, Robin and Ivens, Alasdair and Johnston, David A and Lacerda, Daniela and MacEdo, Camila D and McVeigh, Paul and Ning, Zemin and Oliveira, Guilherme and Overington, John P and Parkhill, Julian and Pertea, Mihaela and Pierce, Raymond J and Protasio, Anna V and Quail, Michael A and Rajandream, Marie-Adèle and Rogers, Jane and Sajid, Mohammed and Salzberg, Steven L and Stanke, Mario and Tivey, Adrian R and White, Owen and Williams, David L and Wortman, Jennifer and Wu, Wenjie and Zamanian, Mostafa and Zerlotini, Adhemar and Fraser-Liggett, Claire M and Barrell, Barclay G and El-Sayed, Najib M
Nature (London), ISSN 0028-0836, 07/2009, Volume 460, Issue 7253, pp. 352 - 358
Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Biological and medical sciences | Antiparasitic agents | Medical sciences | Pharmacology. Drug treatments | Antibiotics. Antiinfectious agents. Antiparasitic agents | Schistosoma mansoni - drug effects | Schistosoma mansoni - physiology | Introns - genetics | Physical Chromosome Mapping | Schistosoma mansoni - embryology | Molecular Sequence Data | Exons - genetics | Schistosomiasis mansoni - drug therapy | Schistosoma mansoni - genetics | Biological Evolution | Host-Parasite Interactions - genetics | Animals | Schistosomiasis mansoni - parasitology | Genes, Helminth - genetics | Genome, Helminth - genetics | Microbial genetics | Schistosomiasis | Usage | Causes of | Genetic aspects | Research | Computational biology | Studies | Genomics | Fluorescence in situ hybridization | Artificial chromosomes | Drug therapy | Drug resistance | Tropical diseases | Worms | Life cycles | Index Medicus
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4. Full Text The Genome of the African Trypanosome Trypanosoma brucei
by Matthew Berriman and Elodie Ghedin and Christiane Hertz-Fowler and Gaëlle Blandin and Hubert Renauld and Daniella C. Bartholomeu and Nicola J. Lennard and Elisabet Caler and Nancy E. Hamlin and Brian Haas and Ulrike Böhme and Linda Hannick and Martin A. Aslett and Joshua Shallom and Lucio Marcello and Lihua Hou and Bill Wickstead and U. Cecilia M. Alsmark and Claire Arrowsmith and Rebecca J. Atkin and Andrew J. Barron and Frederic Bringaud and Karen Brooks and Mark Carrington and Inna Cherevach and Tracey-Jane Chillingworth and Carol Churcher and Louise N. Clark and Craig H. Corton and Ann Cronin and Rob M. Davies and Jonathon Doggett and Appolinaire Djikeng and Tamara Feldblyum and Mark C. Field and Audrey Fraser and Ian Goodhead and Zahra Hance and David Harper and Barbara R. Harris and Heidi Hauser and Jessica Hostetler and Al Ivens and Kay Jagels and David Johnson and Justin Johnson and Kristine Jones and Arnaud X. Kerhornou and Hean Koo and Natasha Larke and Scott Landfear and Christopher Larkin and Vanessa Leech and Alexandra Line and Angela Lord and Annette MacLeod and Paul J. Mooney and Sharon Moule and David M. A. Martin and Gareth W. Morgan and Karen Mungall and Halina Norbertczak and Doug Ormond and Grace Pai and Chris S. Peacock and Jeremy Peterson and Michael A. Quail and Ester Rabbinowitsch and Marie-Adele Rajandream and Chris Reitter and Steven L. Salzberg and Mandy Sanders and Seth Schobel and Sarah Sharp and Mark Simmonds and Anjana J. Simpson and Luke Tallon and C. Michael R. Turner and Andrew Tait and Adrian R. Tivey and Susan Van Aken and Danielle Walker and David Wanless and Shiliang Wang and Brian White and Owen White and Sally Whitehead and John Woodward and Jennifer Wortman and Mark D. Adams and T. Martin Embley and Keith Gull and Elisabetta Ullu and J. David Barry and Alan H. Fairlamb and Fred Opperdoes and Barclay G. Barrell and John E. Donelson and Neil Hall and Claire M. Fraser and ...
Science (American Association for the Advancement of Science), ISSN 0036-8075, 7/2005, Volume 309, Issue 5733, pp. 416 - 422
Enzymes | Pseudogenes | Genes | Actins | Cytoskeleton | Genomes | Parasitism | Research Articles | Parasites | Metabolism | Chromosomes | Science & Technology - Other Topics | Multidisciplinary Sciences | Science & Technology | Antigens, Protozoan - immunology | Genome, Protozoan | Glycosylphosphatidylinositols - biosynthesis | Glutathione - metabolism | Humans | Spermidine - analogs & derivatives | Spermidine - metabolism | Molecular Sequence Data | Genes, Protozoan | Pyrimidines - biosynthesis | Protozoan Proteins - genetics | Trypanosoma brucei brucei - chemistry | Amino Acids - metabolism | Protozoan Proteins - metabolism | Chromosomes - genetics | Recombination, Genetic | Protozoan Proteins - chemistry | Antigens, Protozoan - genetics | Cytoskeleton - chemistry | Antigens, Protozoan - chemistry | Antigenic Variation | Glutathione - analogs & derivatives | Trypanosoma brucei brucei - metabolism | Purines - metabolism | Carbohydrate Metabolism | Cytoskeleton - genetics | Ergosterol - biosynthesis | Lipid Metabolism | Trypanosoma brucei brucei - genetics | Sequence Analysis, DNA | Protein Transport | Trypanosomiasis, African - parasitology | Animals | Cytoskeleton - physiology | Trypanosoma brucei brucei - immunology | Genetic aspects | Trypanosoma | Sleep disorders | Glycoproteins | Genomics | Index Medicus
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5. Full Text Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
by O’Donnell-Luria, Anne H and Pais, Lynn S and Faundes, Víctor and Wood, Jordan C and Sveden, Abigail and Luria, Victor and Abou Jamra, Rami and Accogli, Andrea and Amburgey, Kimberly and Anderlid, Britt Marie and Azzarello-Burri, Silvia and Basinger, Alice A and Bianchini, Claudia and Bird, Lynne M and Buchert, Rebecca and Carre, Wilfrid and Ceulemans, Sophia and Charles, Perrine and Cox, Helen and Culliton, Lisa and Currò, Aurora and McRae, Jeremy F and Clayton, Stephen and Fitzgerald, Tomas W and Kaplanis, Joanna and Prigmore, Elena and Rajan, Diana and Sifrim, Alejandro and Aitken, Stuart and Akawi, Nadia and Alvi, Mohsan and Ambridge, Kirsty and Barrett, Daniel M and Bayzetinova, Tanya and Jones, Philip and Jones, Wendy D and King, Daniel and Krishnappa, Netravathi and Mason, Laura E and Singh, Tarjinder and Tivey, Adrian R and Ahmed, Munaza and Anjum, Uruj and Archer, Hayley and Armstrong, Ruth and Awada, Jana and Balasubramanian, Meena and Banka, Siddharth and Baralle, Diana and Barnicoat, Angela and Batstone, Paul and Baty, David and Bennett, Chris and Berg, Jonathan and Bernhard, Birgitta and Bevan, A. Paul and Bitner-Glindzicz, Maria and Blair, Edward and Blyth, Moira and Bohanna, David and Bourdon, Louise and Bourn, David and Bradley, Lisa and Brady, Angela and Brent, Simon and Brewer, Carole and Brunstrom, Kate and Bunyan, David J and Burn, John and Canham, Natalie and Castle, Bruce and Chandler, Kate and Chatzimichali, Elena and Cilliers, Deirdre and Clarke, Angus and Clasper, Susan and Clayton-Smith, Jill and Clowes, Virginia and Coates, Andrea and Cole, Trevor and Colgiu, Irina and Collins, Amanda and Collinson, Morag N and Connell, Fiona and Cooper, Nicola and Cox, Helen and Cresswell, Lara and Cross, Gareth and Crow, Yanick and D’Alessandro, Mariella and Dabir, Tabib and Davidson, Rosemarie and Davies, Sally and de Vries, Dylan and Dean, John and Deshpande, Charu and Devlin, Gemma and Dixit, Abhijit and Dobbie, Angus and Donaldson, Alan and ... and Deciphering Developmental Disorders (DDD) Study and Deciphering Dev Disorders DDD
American journal of human genetics, ISSN 0002-9297, 06/2019, Volume 104, Issue 6, pp. 1210 - 1222
KMT2E | epilepsy | H3K4 methylation | global developmental delay | neurodevelopmental disorder | intellectual disability | epileptic encephalopathy | autism | yes | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Humans | Child, Preschool | Infant | Male | DNA-Binding Proteins - genetics | Epilepsy - etiology | Neurodevelopmental Disorders - pathology | Haploinsufficiency | Genetic Variation | Young Adult | Phenotype | Pedigree | Adolescent | Adult | Female | Heterozygote | Child | Epilepsy - pathology | Neurodevelopmental Disorders - etiology | Genetic variation | Epilepsy | Nervous system | Genetic aspects | Degeneration | Research | Risk factors | Index Medicus | Life Sciences | Genetics | Human genetics | Report | Medicin och hälsovetenskap
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6. Full Text Comparative genomic analysis of three Leishmania species that cause diverse human disease
by Ivens, Alasdair and Peacock, Christopher S and Carver, Tim and Thurston, Scott and Tivey, Adrian and Chillingworth, Tracey and Baldauf, Sandra L and Smith, Deborah F and Oyola, Samuel O and Faulconbridge, Adam and Barrell, Barclay and Brito, Loislene O and Jeffares, Daniel and Arrowsmith, Claire and Jagels, Kay and Norbertczak, Halina and Squares, Rob and Whitehead, Sally and Rajandream, Marie-Adele and Cruz, Angela K and Tosi, Luiz R O and Ormond, Doug and Hance, Zahra and Seeger, Kathy and Peters, Nick and Mottram, Jeremy C and White, Brian and Moule, Sharon and Murphy, Lee and Depledge, Daniel P and Harris, David and Berriman, Matthew and Hilley, James D and Fraser, Audrey and Rabbinowitsch, Ester and Bringaud, Frédéric and Ruiz, Jeronimo C and Quail, Michael A and Kerhornou, Arnaud and Rutter, Simon and Aslett, Martin and Adlem, Ellen
Nature genetics, ISSN 1061-4036, 07/2007, Volume 39, Issue 7, pp. 839 - 847
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Amino Acid Sequence | Genomics | Humans | Leishmania major - genetics | Molecular Sequence Data | Leishmania braziliensis - genetics | Animals | Leishmaniasis, Cutaneous - parasitology | Leishmaniasis - parasitology | Leishmaniasis, Visceral - parasitology | Genome | Leishmania infantum - genetics | Leishmania - genetics | Physiological aspects | Genetic aspects | Parasites | Leishmaniasis | Diagnosis | Research | Gene expression | Health aspects | Risk factors | Proteins | Parasitology | Biomedical research | Ribonucleic acid--RNA | Ribonucleic acid | Index Medicus | Life Sciences | Microbiology and Parasitology
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7. Full Text Genome of the Host-Cell Transforming Parasite Theileria annulata Compared with T. parva
by Arnab Pain and Hubert Renauld and Matthew Berriman and Lee Murphy and Corin A. Yeats and William Weir and