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1دورية أكاديمية
المؤلفون: Carles Garcia-Linares, Jaume Mercadé, Bernat Gel, Josep Biayna, Ernest Terribas, Conxi Lázaro, Eduard Serra
المصدر: PLoS ONE, Vol 7, Iss 8, p e42682 (2012)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC3419736?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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المؤلفون: Claudia Vasallo, Frédéric Haziza, Gemma Milla, Daniel Barrowdale, Manuel Rueda, Roberto Ariosa, Jordi Rambla, Carles Garcia-Linares, Silvia Bahena, Emilio Garcia-Rios, Babita Singh, Coline Thomas, Anand Mohan, Mallory A. Freeberg, Teresa D’Altri, Helen Parkinson, Aravind Sankar, Sabela de la Torre, Arcadi Navarro, Ashutosh Shimpi, Mauricio Moldes, Umuthan Uyan, Paul Flicek, Oscar Martinez Llobet, Bela Juhasz, Giselle Kerry, Dona Shaju, Marcos Casado Barbero, Dietmar Fernandez-Orth, Aina Jene, Lauren A Fromont, Roderic Guigó, Jorge Izquierdo Ciges, Thomas M. Keane, Anna Foix Romero
المصدر: Nucleic Acids Research
مصطلحات موضوعية: Genotype, AcademicSubjects/SCI00010, Datasets as Topic, Translational research, Phenome, Biology, History, 21st Century, Translational Research, Biomedical, Resource (project management), Genetics, Database Issue, Humans, Phenomics, Value chain, Register of data controllers, computer.programming_language, Metadata, Genome, Human, Information Dissemination, History, 20th Century, Data science, Data access, Phenotype, Key (cryptography), Elixir (programming language), computer, Confidentiality
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a9c48ae4c3d97e79556278e23735e1Test
http://europepmc.org/articles/PMC8728218Test -
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المؤلفون: Conxi Lázaro, Carles Garcia-Linares, Eduard Serra, Ernest Terribas
المصدر: Clinical Chemistry. 59:928-937
مصطلحات موضوعية: medicine.diagnostic_test, biology, Somatic cell, Biochemistry (medical), Clinical Biochemistry, Malignant peripheral nerve sheath tumor, Real-Time Polymerase Chain Reaction, medicine.disease, Sensitivity and Specificity, Molecular biology, Neurofibromin 1, Real-time polymerase chain reaction, Neoplasms, Genes, Neurofibromatosis 1, medicine, biology.protein, Humans, Multiplex, Genetic Testing, Neurofibromatosis, Gene, Gene Deletion, Genetic testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e3b7eafd2a116f21c3f3a9a3ae09b6bTest
https://doi.org/10.1373/clinchem.2012.194217Test -
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المؤلفون: Ludwine Messiaen, Conxi Lázaro, Eduard Serra, Chuanhua Fu, Kathrin Bengesser, Fady M. Mikhail, Hildegard Kehrer-Sawatzki, Carles Garcia-Linares, Julia Vogt, David Neil Cooper
المصدر: Human Mutation. 32:213-219
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Neurofibromatosis 1, Adolescent, Non-allelic homologous recombination, Germline mosaicism, Biology, medicine.disease_cause, Young Adult, Genes, Neurofibromatosis 1, Genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Neurofibromatosis, Child, Genetics (clinical), Mutation, Mosaicism, Breakpoint, Low copy repeats, Middle Aged, medicine.disease, Molecular biology, Female, Gene Deletion, SNP array
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb042369b128ffb13a69a2298a736cc4Test
https://doi.org/10.1002/humu.21418Test -
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المؤلفون: Yolanda Benavente, Jaume Mercadé, Ignacio Blanco, Conxi Lázaro, Anna Ravella, Eva Pros, Eduard Serra, Hildegard Kehrer-Sawatzki, Llúcia Benito, Ernest Terribas, Carles Garcia-Linares, Gabriel Capellá, Juana Fernández-Rodríguez
المصدر: Human Mutation
مصطلحات موضوعية: Neurofibromatosis 1, Mitotic crossover, DNA Copy Number Variations, Cell Culture Techniques, Chromosome Breakpoints, Loss of Heterozygosity, Biology, Loss of heterozygosity, Gene Frequency, modifier genes, Genetics, medicine, Humans, LOH, Neurofibroma, Neurofibromatosis, neoplasms, Allele frequency, Gene, Genetics (clinical), medicine.disease, mitotic recombination, NF1, Chromosome Deletion, variation, Research Article, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8735819738d71769d14646543751fb0Test
https://doi.org/10.1002/humu.21387Test -
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المؤلفون: Bernat Gel, Josep Biayna, Conxi Lázaro, Jaume Mercadé, Carles Garcia-Linares, Ernest Terribas, Eduard Serra
المصدر: PLoS ONE, Vol 7, Iss 8, p e42682 (2012)
Dipòsit Digital de la UB
Universidad de Barcelona
PLoS ONE
Recercat. Dipósit de la Recerca de Catalunya
instnameمصطلحات موضوعية: Gene Dosage, lcsh:Medicine, Locus (genetics), Biology, Gene dosage, Genome, Neurofibromatosis, Molecular Genetics, Molecular cell biology, DNA amplification, Genomic Medicine, Genetic Mutation, Genome Analysis Tools, Reacció en cadena de la polimerasa, Neoplasms, Multiplex polymerase chain reaction, Basic Cancer Research, Genetics, Cancer Genetics, Humans, Multiplex ligation-dependent probe amplification, Genetic Testing, Allele, lcsh:Science, Alleles, Multidisciplinary, Neurofibromatosi, lcsh:R, Mutation Types, Cancers and Neoplasms, Human Genetics, Genomics, DNA, Polymerase chain reaction, Nucleic acids, Oncology, Genetic marker, Microsatellite, Medicine, lcsh:Q, Multiplex Polymerase Chain Reaction, Microsatellite Repeats, Research Article
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a9f3a7d27a7773b5a9fa10021a15b9cTest
http://europepmc.org/articles/PMC3419736?pdf=renderTest