-
1
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 -
2
المؤلفون: Steven Laurie, Teresinha Evangelista, Gulcin Gumus, Angela Lochmüller, Patrick F. Chinnery, Leigh C. Carmody, Gisèle Bonne, Hanns Lochmüller, Matthew J. Jennings, Thiloka Ratnaike, Rachel Thompson, Holm Graessner, Sergi Beltran, Leslie Matalonga, Carles Hernandez-Ferrer, Katherine Schon, Jean-François Desaphy, Peter N. Robinson, Virginie Bros-Facer, Carola Reinhard, Alberto Corvo, Rita Horvath, Matthis Synofzik, Bertrand Fontaine, Antonio Atalaia, David Gómez-Andrés, Davide Piscia, Katja Lohmann, Rabah Ben Yaou, Alfons Macaya, Olaf Riess, Birte Zurek
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-2 (2021)
Orphanet journal of rare diseases 16(1), 145 (2021). doi:10.1186/s13023-021-01777-6مصطلحات موضوعية: Computer science, Writing, lcsh:R, Pharmacology toxicology, lcsh:Medicine, Correction, General Medicine, Data science, Human genetics, Rare Diseases, Systematic review, Research Design, Humans, Pharmacology (medical), ddc:610, Genetics (clinical), Data Management, Systematic Reviews as Topic, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ee7f1a6694da6ec27b40c8e57474951Test
https://doi.org/10.1186/s13023-021-01777-6Test -
3
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
-
4
المؤلفون: M Pettersson, Yannis Duffourd, Marco Tartaglia, Steven Laurie, Tobias B. Haack, Karolis Sablauskas, Andrea Ciolfi, Antonio Vitobello, Aurélien Trimouille, A Nordgren, E Lopez-Martin, A Hugon, K Vyshka, M Schwarz, M Janssen, S Li, Isabelle Nelson, S Prasanth, Christian Gilissen, Lelm Vissers, Rita Horvath, Simone Pizzi, G Casari, Leslie Matalonga, de, Boer, E, Caroline Rooryck, Siddharth Banka, Michele Pinelli, Mridul Johari, Christel Thauvin, Peter N. Robinson, M Posada, Wouter Steyaert, RJ Rodenburg, Marco Savarese, Jill Clayton-Smith, Ana Töpf, Annalaura Torella, A-S Denomme-Pichon, A Hammarsjo, Milan Macek, A Lindstrand, L Ryba, Elisa Benetti, Enzo Cohen, Birte Zurek, van, der, Velde, Jk, CW Ockeloen, D Henssen, Marketa Havlovicova, Daniel Danis, Francesca Clementina Radio, Bruno Dallapiccola, Mjh Coenen, Ida Paramonov, Tjitske Kleefstra, Laurence Faivre, Lisenka E.L.M. Vissers, I Cuesta, Alessandra Renieri, Alexander Hoischen, Alain Verloes, Adam Jackson, Nigro, Sophia Peters
المصدر: European Journal of Human Genetics. 29:1470-1471
مصطلحات موضوعية: 0303 health sciences, Pediatrics, medicine.medical_specialty, business.industry, 030305 genetics & heredity, medicine.disease, Human genetics, MT-TL1, 03 medical and health sciences, Epilepsy, Intellectual disability, Genetics, Spastic tetraparesis, Medicine, business, Genetics (clinical), Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1ca165e7b2a45a2ceb534d5a840ea3c9Test
https://doi.org/10.1038/s41431-021-00937-3Test -
5
المؤلفون: Elmasnur Yilmaz, Sunitha Balaraju, Serdal Güngör, Yavuz Oktay, Semra Hiz, Ana Töpf, Hanns Lochmüller, Daniel G. MacArthur, Rachel Thompson, Uluç Yiş, Rita Horvath, Steven Laurie, Andreas Roos, Ahmet Yaramis, Ece Sonmezler
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], MacArthur, Daniel G [0000-0002-5771-2290], Lochmüller, Hanns [0000-0003-2324-8001], Apollo - University of Cambridge Repository, MacArthur, Daniel G. [0000-0002-5771-2290]
المصدر: European journal of human genetics : EJHG
مصطلحات موضوعية: Adult, Male, Cerebellum, Heterozygote, Developmental Disabilities, Medizin, dysmorphism, Mutation, Missense, Biology, Brief Communication, medicine.disease_cause, Nervous System Malformations, Article, 03 medical and health sciences, Genetics, medicine, Missense mutation, Humans, Child, Genetics (clinical), Exome sequencing, 0303 health sciences, Mutation, Trastorns del neurodesenvolupament, brief-communication, 030305 genetics & heredity, Homozygote, 1. No poverty, Infant, autosomal recessive, Heterozygote advantage, West Syndrome, Phenotype, 3. Good health, Pedigree, TLK2, neurodevelopmental disease, medicine.anatomical_structure, Female, Haploinsufficiency, Proteïnes, Protein Kinases, Spasms, Infantile, Genètica
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/png; image/jpeg; text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4ae66386100761b3649aba86ab8c066Test
https://www.repository.cam.ac.uk/handle/1810/293649Test -
6
المؤلفون: Grace McMacken, Judith Cossins, Seena Vengalil, Robert McFarland, Charu Deshpande, Rita Horvath, Astrid Pechmann, Helen Roper, Sunitha Balaraju, Robert W. Taylor, Saraswati Nashi, Nalini Atchayaram, Janbernd Kirschner, Kiran Polavarapu, David Beeson, Steven Laurie, Ana Töpf, Niranjan Prakash Mahajan, Veeramani Preethish Kumar, Ines A. Barbosa, Hanns Lochmüller
المساهمون: Balaraju, Sunitha [0000-0003-0273-1918], Apollo - University of Cambridge Repository, Horvath, Rita [0000-0002-9841-170X]
المصدر: European Journal of Human Genetics
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Malalties neuromusculars, Genetic testing, Neuromuscular transmission, Mutation, Missense, Organic Anion Transporters, 45/23, 631/208/2489/1512, Brief Communication, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Intellectual Disability, Intellectual disability, Genetics, medicine, Missense mutation, Humans, Muscle, Skeletal, health care economics and organizations, Genetics (clinical), Exome sequencing, Myasthenic Syndromes, Congenital, business.industry, Genetic heterogeneity, Haplotype, Homozygote, 631/208/514/2254, brief-communication, Congenital myasthenic syndrome, medicine.disease, 3. Good health, 030104 developmental biology, Haplotypes, Next-generation sequencing, Female, Malalties congènites, business, 030217 neurology & neurosurgery, Founder effect
وصف الملف: text/xml; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f20bae1015e38441624b4a45e35f05Test
https://www.repository.cam.ac.uk/handle/1810/310287Test -
7
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
instnameمصطلحات 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 -
8
المؤلفون: Steven Laurie, Gisela Teixidó, Maria Brion, Marta Gut, Francesca Huguet, Artur Evangelista, Marina Gago-Díaz, Angel Carracedo, Alejandro Blanco-Verea, Ivo Gut
المصدر: European Journal of Clinical Investigation. 46:787-794
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Candidate gene, Clinical Biochemistry, Population, 030204 cardiovascular system & hematology, Biology, Bioinformatics, Biochemistry, Variable Expression, 03 medical and health sciences, 0302 clinical medicine, Genetic variation, Humans, Age of Onset, Child, education, Exome sequencing, Cyclic GMP-Dependent Protein Kinase Type I, Genetics, education.field_of_study, Massive parallel sequencing, Aortic Aneurysm, Thoracic, Heterozygote advantage, General Medicine, Middle Aged, Penetrance, Pedigree, Aortic Dissection, 030104 developmental biology, Spain, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db411cffebb77247cab290f674ec5e0Test
https://doi.org/10.1111/eci.12662Test -
9
المؤلفون: Livia Garavelli, L. Matalonga, Ivan Ivanovski, Stefano Giuseppe Caraffi, Ilenia Maini, Steven Laurie, Chiara Baldo, Chiara Gelmini, Simonetta Rosato, Marzia Pollazzon, M.L. De Bernardi, E. Farnetti
المصدر: Neuropediatrics. 49:222-224
مصطلحات موضوعية: 0301 basic medicine, Postaxial polydactyly, Pathology, medicine.medical_specialty, Fingers, 03 medical and health sciences, medicine, Cyclin D2, Humans, Megalencephaly, Child, business.industry, General Medicine, Toes, medicine.disease, Perisylvian polymicrogyria, Hydrocephalus, Polydactyly, 030104 developmental biology, Polymicrogyria, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44486ec623267c2f63d109cf8bb1f342Test
https://doi.org/10.1055/s-0038-1641722Test -
10
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