المؤلفون: Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository, Matalonga, Leslie [0000-0003-0807-2570], Freeberg, Mallory Ann [0000-0003-2949-3921]

مصطلحات موضوعية: diagnosis, data sharing, Genetics, standards, data visualization, rare diseases, Biochemistry, Genetics and Molecular Biology (miscellaneous), exome analysis, remote data access, federated infrastructures, genome analysis

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4cbc2bf7c33765491e8298f9584d67eTest
https://www.repository.cam.ac.uk/handle/1810/347085Test

المؤلفون: Uluç Yiş, Denisa Hathazi, Serdal Güngör, Ezgi Karaca, Ipek Kalafatcilar, Ahmet Yaramis, Ece Sonmezler, Nóra Zs Szabó, Ana Töpf, Elmasnur Yilmaz, Daniel G. MacArthur, Andreas Roos, Burcu Ekinci, Sunitha Balaraju, Steven Laurie, Bilge Özgör, Rita Horvath, Mahmut Aslan, Isabelle Vernos, Yavuz Oktay, Semra Hiz, Hanns Lochmüller, Sergi Beltran, Álvaro Aranguren-Ibáñez

المساهمون: Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: iScience
iScience, Vol 24, Iss 1, Pp 101948-(2021)

مصطلحات موضوعية: 0301 basic medicine, Protemics, Medizin, 02 engineering and technology, Molecular neuroscience, macromolecular substances, medicine.disease_cause, Article, Extracellular matrix, 03 medical and health sciences, Malalties del neurodesenvolupament, Microtubule, medicine, lcsh:Science, Cell adhesion, Cytoskeleton, health care economics and organizations, Mutation, Multidisciplinary, biology, Systems Biology, Clinical Neuroscience, Biological Sciences, 021001 nanoscience & nanotechnology, Cell biology, 030104 developmental biology, Tubulin, biology.protein, lcsh:Q, Axon guidance, Molecular Neuroscience, 0210 nano-technology, Proteïnes, Genètica, Neuroscience

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7396541582b104f4e888201af99ec4d8Test

المؤلفون: Steven Laurie, Maria Vila-Casadesús, Antoni Castells, Teresa Ocaña, Joaquín Cubiella, Clara Esteban-Jurado, Jordi Camps, Saray Duran-Sanchon, Jenifer Muñoz, Trinidad Caldés, Juan José Lozano, Sergi Beltran, Laia Bonjoch, Sergi Castellví-Bel, Pilar Garre, Isabel Quintanilla, Sophia Derdak, Francesc Balaguer, Marcos Díaz-Gay, María López-Cerón, Esther Samper, Luis Bujanda, Miriam Cuatrecasas, Sebastià Franch-Expósito, Sabela Carballal, Meritxell Gironella, Jaime J. Carvajal, Clara Ruiz-Ponte

المساهمون: Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Fundación Científica Asociación Española Contra el Cáncer, European Commission, Generalitat de Catalunya, Asociación Española de Gastroenterología

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instname

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Colorectal cancer, MathematicsofComputing_GENERAL, TheoryofComputation_GENERAL, High-Throughput Nucleotide Sequencing, Computational biology, Biology, medicine.disease, Germline, 03 medical and health sciences, Germ Cells, 030104 developmental biology, 0302 clinical medicine, 030220 oncology & carcinogenesis, Exome Sequencing, Genetics, medicine, Humans, Exome, Genetic Predisposition to Disease, Copy-number variation, Colorectal Neoplasms, Molecular Biology, Exome sequencing

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3cd8e6f5dbaa7bb92a814715b9b506cTest
https://doi.org/10.1016/j.jgg.2017.12.001Test

المؤلفون: Jaume Comas-Riu, Giuliana Maldonado, Amaya Amador-Catalan, Sergi Beltran, Teresa González-Alujas, Gemma Ferrer-Curriu, Artur Evangelista, Alfredo Bardají, María L Pérez, Berta Fuste, Steven Laurie, Manuel Galiñanes, Eduard Permanyer, Arnau Blasco-Lucas

المصدر: European Journal of Medical Genetics. 63:103854

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Heart disease, Heart Valve Diseases, Dwarfism, Short stature, Myxomatous degeneration, Frameshift mutation, Genetics, medicine, Humans, Heart valve, Family history, Child, Frameshift Mutation, Genetics (clinical), Exome sequencing, Adaptor Proteins, Signal Transducing, Aged, business.industry, valvular heart disease, Exons, General Medicine, Middle Aged, medicine.disease, medicine.anatomical_structure, Child, Preschool, Face, Female, medicine.symptom, business, Myxoma

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8718baf5be53095bc5008175bbf62299Test
https://doi.org/10.1016/j.ejmg.2020.103854Test

المؤلفون: D. Ardicli, S.B. Agullo, Francesco Muntoni, Steven Laurie, Irina Zaharieva, Mariacristina Scoto, L.M. Borrel, Anna Sarkozy, Rahul Phadke

المصدر: Neuromuscular Disorders. 28:S36-S37

مصطلحات موضوعية: Arthrogryposis, Genetics, Neurology, MAGEL2 gene, Pediatrics, Perinatology and Child Health, medicine, Autistic features, Neurology (clinical), Global developmental delay, medicine.symptom, Biology, Novel mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1d410ff15d648a672c0309af1931388bTest
https://doi.org/10.1016/s0960-8966Test(18)30400-0