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1Academic Journal
المؤلفون: Gustavo A Salazar, Leyla J García, Philip Jones, Rafael C Jimenez, Antony F Quinn, Andrew M Jenkinson, Nicola Mulder, Maria Martin, Sarah Hunter, Henning Hermjakob
المصدر: PLoS ONE, Vol 7, Iss 9, p e44180 (2012)
وصف الملف: electronic resource
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2
المؤلفون: Dorothea Emig, Andreas Prlić, Mario Albrecht, Robert D. Finn, Joachim Büch, Fidel Ramírez, Sven-Eric Schelhorn, Thomas Lengauer, Hagen Blankenburg, Andrew M. Jenkinson
المصدر: Bioinformatics
مصطلحات موضوعية: Statistics and Probability, Web server, Computer science, Databases and Ontologies, computer.software_genre, Biochemistry, World Wide Web, User-Computer Interface, 03 medical and health sciences, Annotation, Software, Databases, Genetic, Protein Interaction Mapping, Molecular Biology, 030304 developmental biology, Internet, 0303 health sciences, business.industry, 030302 biochemistry & molecular biology, Computational Biology, Proteins, Original Papers, Computer Science Applications, Visualization, Computational Mathematics, Computational Theory and Mathematics, Data exchange, Database Management Systems, Graph (abstract data type), The Internet, business, computer, Data integration
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المؤلفون: Sarah Edkins, Sinitdhorn Rujirabanjerd, Charles E. Schwartz, Cheryl Shoubridge, Jamel Chelly, Kelly Turrell, Sofie West, Matt Blow, Richard Wooster, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Yali Xue, Michael R. Stratton, Francisco Martínez, Annabel Whibley, Sarah O’Meara, Lucianne Vandeleur, Jozef Gecz, Calli Latimer, Arjan P.M. de Brouwer, Michael Field, Sara Widaa, Eric Haan, Kristian Gray, John Tolmie, Rebecca Shepherd, Tatiana Mironenko, Paul Wray, Chris Tyler-Smith, Rachel Turner, David T. Jones, Anna Hackett, Ed Dicks, Martine Raynaud, Erin Pleasance, Christopher Greenman, Fatima Abidi, Jenny Moon, Rene Goliath, P. Andrew Futreal, Gemma L. Carvill, Roger E. Stevenson, Gillian Turner, Claire Hardy, Deborah J. Thompson, Phil Stephens, Patrick S. Tarpey, Rebecca Dunmore, Andrew M. Jenkinson, Martin Bobrow, Raffaella Smith, Syd Barthorpe, Gemma Buck, Tod Fullston, James J. Cox, Jennifer Varian, Mark A. Corbett, Uma Mallya, M Isabel Tejada, Jackie Boyle, David S. Richardson, Anand Srivastava, Mark Maddison, Jenny Andrews, Hilde Van Esch, Hans-Hilger Ropers, Adam Butler, Jon W. Teague, Shehla Mohammed, Alison Gardner, Josef Parnau, Hans van Bokhoven, Andrew Menzies, Mingming Jia, Michael Partington, Marie Shaw, Cindy Skinner, Jennifer Cole
المصدر: NATURE GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Nature Genetics, 41, 535-43
Nature Genetics, 41, 5, pp. 535-43مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], X-linked intellectual disability, Sequence analysis, Biology, DNA sequencing, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, CASK, Gene, Loss function, X chromosome, 030304 developmental biology, Chromosomes, Human, X, 0303 health sciences, Chromosome Mapping, Genetic Variation, Exons, Sequence Analysis, DNA, medicine.disease, Pedigree, Mental Retardation, X-Linked, Female, Human genome, Functional Neurogenomics [DCN 2], 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Kelly Halliday, F. Lucy Raymond, Kristian Gray, Sofie West, Rebecca Shepherd, Sara Widaa, Syd Barthorpe, P. Andrew Futreal, Gillian Turner, H. E. Hughes, Claire Stevens, Alexandra Small, Mark A. Corbett, Andrew M. Jenkinson, Gemma Buck, Roger E. Stevenson, Sarah O’Meara, Raffaella Smith, Marie Shaw, Jozef Gecz, David S. Richardson, Andrew Menzies, Calli Tofts, Janet Perry, Uma Mallya, Jennifer Varian, Michael R. Stratton, John C. Mulley, Tatiana Mironenko, David T. Jones, Michael Partington, Patrick S. Tarpey, Ed Dicks, Richard Wooster, Martin Bobrow, Jenny Moon, Jennifer Cole, Sarah Edkins, Charles E. Schwartz, Ying Luo, Keiran Raine, Katy Hills, Adam Butler, Michael Field, Jon W. Teague, Kathryn Friend
المصدر: The American Journal of Human Genetics. 81(2):367-374
مصطلحات موضوعية: Male, Biology, medicine.disease_cause, Report, Intellectual disability, medicine, Genetics, Humans, Abnormalities, Multiple, Genetics(clinical), Gene, Genetics (clinical), X chromosome, Mutation, Macrocephaly, medicine.disease, Phenotype, Bromodomain, Pedigree, Developmental disorder, Mental Retardation, X-Linked, medicine.symptom, Head, Sequence Alignment, Transcription Factors
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المؤلفون: Andrew M. Jenkinson, Henning Hermjakob, Bernat Gel Moreno, Xavier Messeguer Peypoch, Rafael C. Jimenez
المساهمون: Universitat Politècnica de Catalunya. Departament de Llenguatges i Sistemes Informàtics, Universitat Politècnica de Catalunya. ALBCOM - Algorismia, Bioinformàtica, Complexitat i Mètodes Formals
المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
BMC Bioinformatics, Vol 12, Iss 1, p 23 (2011)
Recercat. Dipósit de la Recerca de Catalunya
instname
BMC Bioinformaticsمصطلحات موضوعية: Informàtica::Aplicacions de la informàtica::Bioinformàtica [Àrees temàtiques de la UPC], Servidors web, Computer science, Process (engineering), lcsh:Computer applications to medicine. Medical informatics, Biochemistry, World Wide Web, Computer Communication Networks, Annotation, Software, Structural Biology, Server, Informàtica::Sistemes d'informació::Emmagatzematge i recuperació de la informació [Àrees temàtiques de la UPC], lcsh:QH301-705.5, Molecular Biology, Publication, Internet, Biological data, business.industry, Applied Mathematics, Molecular Sequence Annotation, Computer Science Applications, lcsh:Biology (General), Work (electrical), lcsh:R858-859.7, The Internet, business, Web servers
وصف الملف: application/pdf
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المؤلفون: Syed Haider, Michael Schuster, Y. Amy Tang, Peter Clapham, James Smith, Julio Fernandez-Banet, Javier Herrero, Benoit Ballester, Gautier Koscielny, Karyn Megy, Steven P. Wilder, William M. McLaren, Bert Overduin, Martin Hammond, Felix Kokocinski, Nathan Johnson, Anne Parker, Simon D. M. White, Leo Gordon, Kerstin Howe, Richard Durbin, Yuan Chen, Damian Smedley, Stephen M. J. Searle, Ian Longden, Andreas Kähäri, Rhoda Kinsella, Albert J. Vilella, Stephen J. Trevanion, Bethan Pritchard, Eugene Kulesha, Ian Dunham, Tim Hubbard, Kathryn Beal, Xosé M. Fernández-Suárez, Paul Flicek, Magali Ruffier, Daniel Lawson, Tim Massingham, Damian Keefe, Susan Fairley, Stephen Fitzgerald, Amonida Zadissa, Eugene Bragin, Guy Coates, Simon Brent, Glenn Proctor, Giulietta Spudich, Jan Hinnerk Vogel, Bronwen Aken, Stephen Keenan, Stefan Gräf, Fiona Cunningham, Guy Slater, Daniel Rios, Ewan Birney, Andrew M. Jenkinson
المساهمون: Spinelli, Lionel, European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg
المصدر: HAL
Nucleic Acids Research
Nucleic Acids Research, Oxford University Press, 2010, 38 (Database issue), pp.D557--62مصطلحات موضوعية: Information Storage and Retrieval, Genomics, Computational biology, Genome browser, Genome, Access to Information, 03 medical and health sciences, 0302 clinical medicine, Species Specificity, Databases, Genetic, Genetics, Ensembl, Animals, Humans, Databases, Protein, Zebra finch, Zebrafish, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, [INFO.INFO-BI] Computer Science [cs]/Bioinformatics [q-bio.QM], 0303 health sciences, Internet, biology, Computational Biology, Genetic Variation, Gene Annotation, Articles, biology.organism_classification, Protein Structure, Tertiary, 030220 oncology & carcinogenesis, Genomic information, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Databases, Nucleic Acid, Software
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المؤلفون: Hagen Blankenburg, Robert D. Finn, Mario Albrecht, Andreas Kähäri, Eugene Kulesha, Tim Hubbard, Henning Hermjakob, Jose Ramon Macias, Andreas Prlić, Rafael C. Jimenez, Ewan Birney, Philip Jones, Andrew M. Jenkinson, Gabrielle A. Reeves, Thomas A. Down
المصدر: BMC Bioinformatics, Vol 9, Iss Suppl 8, p S3 (2008)
BMC Bioinformaticsمصطلحات موضوعية: Computer science, Information Storage and Retrieval, computer.software_genre, lcsh:Computer applications to medicine. Medical informatics, Biochemistry, 03 medical and health sciences, Annotation, Structural Biology, Databases, Genetic, Protocol (object-oriented programming), Molecular Biology, lcsh:QH301-705.5, 030304 developmental biology, 0303 health sciences, Biological data, Integrative bioinformatics, business.industry, Applied Mathematics, 030302 biochemistry & molecular biology, Computational Biology, Data science, Computer Science Applications, Systems Integration, Proceedings, lcsh:Biology (General), Database Management Systems, System integration, lcsh:R858-859.7, Data mining, DNA microarray, business, computer
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المؤلفون: Lucianne Vandeleur, Amos D. Korczyn, Michael R. Stratton, Andrew M. Jenkinson, Samantha J. Turner, Gemma Buck, Raffaella Smith, Tatiana Mironenko, David T. Jones, Syd Barthorpe, Adam Butler, Samuel F. Berkovic, Ingrid E. Scheffer, Mark A. Corbett, Zaid Afawi, Sarah O’Meara, Leanne M. Dibbens, Kelly Halliday, Paul Q. Thomas, Andrew Menzies, Daniel H. Geschwind, Jozef Gecz, Marta A. Bayly, John Teague, Tally Lerman-Sagie, Paul Wray, James F. Gusella, Shane McKee, John C. Mulley, Sofie West, Christopher P. Derry, Eric Haan, Hyung Goo Kim, Dorit Lev, Rebecca Shepherd, Aziz Mazarib, Calli Tofts, Rebecca Lee, Mark Madison, Marie Shaw, Edwina Sutton, Jennifer Cole, Sarah Edkins, Grant R. Sutherland, Claire Stevens, Cheryl Shoubridge, Jamee M. Bomar, Jennifer Varian, Miriam Y. Neufeld, Stephen G Ryan, Ed Dicks, Patrick S. Tarpey, Kim Hynes, Sara Widaa, P. Andrew Futreal, Sara Kivity, Kathryn Friend
المساهمون: Dibbens, Leanne M, Tarpey, Patrick S, Hynes, Kim, Bayly, Marta A, Gecz, Jozef
مصطلحات موضوعية: Male, medicine.medical_specialty, Mutation, Missense, Protocadherin, Gene mutation, Biology, medicine.disease_cause, Epilepsy, Genomic Imprinting, Mice, Basic Science, Genes, X-Linked, Genetics, medicine, Missense mutation, Animals, Humans, RNA, Messenger, Gene, X chromosome, In Situ Hybridization, Skin, Mutation, Chromosomes, Human, X, Reverse Transcriptase Polymerase Chain Reaction, Brain, Gene Expression Regulation, Developmental, Fibroblasts, medicine.disease, Cadherins, Protocadherins, Pedigree, Phenotype, Codon, Nonsense, Case-Control Studies, Mental Retardation, X-Linked, Medical genetics, Female, Cognition Disorders
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المؤلفون: Patrick S. Tarpey, Richard Wooster, Tatiana Mironenko, David T. Jones, Michael R. Stratton, Jackie Boyle, Claire Stevens, Sarah F. Smithson, Janet Perry, Alexandra Small, Kelly Halliday, Sara Widaa, Syd Barthorpe, Jennifer Varian, David S. Richardson, Anand Srivastava, Lucianne Vandeleur, Sarah O’Meara, Jozef Gecz, Charles E. Schwartz, Jenny Moon, Jennifer Cole, Ed Dicks, Tim Avis, Sarah Edkins, Susan E. Holder, Andrew Menzies, Roger E. Stevenson, Gillian Turner, Andrew M. Jenkinson, Ying Luo, Douglas F. Easton, F. Lucy Raymond, Jill Clayton-Smith, Jane A. Hurst, Gemma Buck, Jayson Rodriguez, Rachel Harrison, Keiran Raine, Marie Shaw, Rebecca Shepherd, Katy Hills, Calli Tofts, Uma Mallya, Bronwyn Kerr, Adam Butler, Jon W. Teague, Rachel Slaugh, Sofie West, P. Andrew Futreal, Martin Bobrow, Michael Partington, Kristian Gray
مصطلحات موضوعية: Foot Deformities, Male, medicine.medical_specialty, Pes cavus, Ubiquitin-Protein Ligases, Molecular Sequence Data, Poison control, Short stature, 03 medical and health sciences, 0302 clinical medicine, Seizures, Internal medicine, Report, Tremor, Genetics, medicine, Missense mutation, Humans, Genetics(clinical), Abnormalities, Multiple, Amino Acid Sequence, Obesity, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, business.industry, Hypogonadism, Macrocephaly, medicine.disease, Cullin Proteins, Ubiquitin ligase, Aggression, Protein Subunits, Endocrinology, Child, Preschool, Mutation, biology.protein, Mental Retardation, X-Linked, Intention tremor, CUL4B, medicine.symptom, business, Head, 030217 neurology & neurosurgery
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المؤلفون: Syd Barthorpe, Mark A. Corbett, George Hoganson, Doug A. Brooks, John Teague, Richard Wooster, Claire Stevens, Charles E. Schwartz, Janet Perry, Jennifer Varian, Jennifer Cole, Sarah Edkins, P. Andrew Futreal, John P. Warner, Jayson Rodriguez, David S. Richardson, Anand Srivastava, Paul Q. Thomas, Jenny Moon, Gillian Turner, F. Lucy Raymond, Cheryl Shoubridge, Michael R. Stratton, Duane W Superneau, Andrew Menzies, Patrick S. Tarpey, Adam Butler, Lam Son Nguyen, Raffaella Smith, Martin Bobrow, Sofie West, Pauline Pearson, Tracy Sanderson, Sarah O’Meara, Katy Hills, Emma J. Parkinson-Lawrence, Jozef Gecz, Andrew M. Jenkinson, Rebecca Shepherd, Gemma Buck, Alison Gardner, Kelly Halliday, Josep Parnau, Anna Hackett, Keiran Raine, Richard J. Simensen, Sara Widaa, Cindy Skinner, Calli Tofts, Mary Porteous, Roger E. Stevenson, Tatiana Mironenko, Shambhu Bhat, David T. Jones, Lucianne Vandeleur, Ed Dicks, Yin Luo
المساهمون: Tarpey, Patrick, Raymond, F Lucy, Nguyen, Lam, Rodriguez, Jayson, Hackett, Anna, Vandeleur, Lucianne, Smith, Raffaella, Shoubridge, Cheryl, Edkins, Sarah, Stevens, Claire, O'Meara, Sarah, Tofts, Calli, Barthorpe, Syd, Buck, Gemma, Cole, Jennifer, Halliday, Kelly, Hills, Katy
مصطلحات موضوعية: Male, RNA Stability, DNA Mutational Analysis, Immunoblotting, Molecular Sequence Data, Nonsense-mediated decay, RNA-binding protein, Biology, medicine.disease_cause, Article, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, RNA, Messenger, Gene, X chromosome, Cell Line, Transformed, Family Health, Mutation, Messenger RNA, Sequence Homology, Amino Acid, Reverse Transcriptase Polymerase Chain Reaction, Gene Expression Profiling, RNA-Binding Proteins, Syndrome, Phenotype, Pedigree, Codon, Nonsense, Mental Retardation, X-Linked, Female
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المؤلفون: Helen Parkinson, Camille Laibe, Mark Davies, Ewan Birney, Nicole Redaschi, Maria Jesus Martin, Andrew M. Jenkinson, James Malone, Sebastien Gehant, Jerven Bolleman, Nicolas Le Novère, Simon Jupp, Anna Gaulton, Sarala M. Wimalaratne, Marco Brandizi, Leyla Garcia
المصدر: Bioinformatics
مصطلحات موضوعية: Statistics and Probability, Internet, Biomedical Research, business.industry, Computer science, Databases and Ontologies, Academies and Institutes, Computational Biology, computer.file_format, Linked data, Biochemistry, Data science, Applications Notes, Computer Science Applications, World Wide Web, Computational Mathematics, Text mining, Computational Theory and Mathematics, Publishing, Databases, Genetic, The Internet, RDF, business, Molecular Biology, computer
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12Academic Journal
المؤلفون: Bernat Gel Moreno, Andrew M Jenkinson, Rafael C Jimenez, Xavier Messeguer Peypoch, Henning Hermjakob
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/48/ff/BMC_Bioinformatics_2011_Jan_18_12_23.tar.gz
وصف الملف: application/zip
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13Academic Journal
المؤلفون: Hagen Blankenburg, Robert D. Finn, Andreas Prlic, Andrew M. Jenkinson, Fidel Ramírez, Dorothea Emig, Sven-Eric Schelhorn, Joachim Büch, Thomas Lengauer, Mario Albrecht
المصدر: Bioinformatics; May2009, Vol. 25 Issue 10, p1321-1328, 8p
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