المؤلفون: Anna K. Sommer, Iris B.A.W. te Paske, José Garcia-Pelaez, Andreas Laner, Elke Holinski-Feder, Verena Steinke-Lange, Sophia Peters, Laura Valle, Isabel Spier, David Huntsman, Carla Oliveira, Richarda M. de Voer, Nicoline Hoogerbrugge, Stefan Aretz, Gabriel Capella, Gareth Evans, Andreas Rump, Evelin Schröck, Alexander Hoischen, Nicoline Geverink, Marc Tischkowitz, Leslie Matalonga, Steven Laurie, Christian Gilissen, Wouter Steyaert, German Demidov

المصدر: European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 5

مصطلحات موضوعية: Genetic tumour risk syndromes, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Omics, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Genomics, General Medicine, European reference network, Tumour predisposition syndromes, All institutes and research themes of the Radboud University Medical Center, Neoplastic Syndromes, Hereditary, ERN GENTURIS, Exome Sequencing, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics, Humans, Genetic Predisposition to Disease, Colorectal Neoplasms, Cancer genetics, Genetics (clinical)

وصف الملف: application/pdf

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http://hdl.handle.net/10230/54621Test

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/s13023-021-01777-6

مصطلحات 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

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

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

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