المؤلفون: Rita Horvath, Reza Maroofian, Juliane S Müller, Yavuz Oktay, Mahmut Aslan, Ashwati Nair, Uluç Yiş, Emily O'Heir, Elmasnur Yilmaz, Ana Töpf, Henry Houlden, Steven Laurie, Bilge Özgör, Sergi Beltran, Pinar Edem, K. Polavarapu, Fei Gao, Serdal Güngör, Nur Arslan, Andreas Roos, Hanns Lochmüller, Leslie Matalonga, Katherine Schon, Alysia Kern Lovgren, Angela Lochmüller, Patrick F. Chinnery, Nóra Zs Szabó, Denisa Hathazi, Ida Paramonov, Aliz Rieger, Ahmet Yaramis, Ece Sonmezler, Semra Hız Kurul, Ipek Kalafatcilar, Burcu Ekinci

المساهمون: Houlden, Henry [0000-0002-2866-7777], Chinnery, Patrick F [0000-0002-7065-6617], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Brain

مصطلحات موضوعية: Consanguinitat, Population, Medizin, Prevalence, Consanguinity, rate of consanguinity, Compound heterozygosity, DNA sequencing, whole exome sequencing, neurogenetic disease burden, Exome Sequencing, Medicine, Humans, Exome, education, Gene, Exome sequencing, Genetics, consanguineous families, education.field_of_study, business.industry, Homozygote, Pedigree, Phenotype, Cohort, Mutation, Neurology (clinical), Neurogenètica, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a5e400847ded38fef658522e2ef5a88Test
https://avesis.deu.edu.tr/publication/details/de485db7-555e-4eea-9a2b-8423075ec9c4/oaiTest

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

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd81a62ab9d3b8928c73e1a1d1473b35Test
http://hdl.handle.net/10230/54621Test

المؤلفون: Uluç Yiş, Lena Zeltner, Ahmet Yaramis, Ece Sonmezler, Elmasnur Yilmaz, Ludger Schöls, Rebecca Schüle, Benjamin Bender, Rita Horvath, Ana Töpf, Inga Liepelt, Sofie Kaemereit, Sarah Wiethoff, Stephan Züchner, Benjamin Munro, Steven Laurie, Yavuz Oktay, Semra Hiz, Christoph Kernstock, Hanns Lochmüller, Serdal Güngör

المساهمون: Munro, Benjamin [0000-0003-4506-7092], Horvath, Rita [0000-0002-9841-170X], Apollo - University of Cambridge Repository

المصدر: Journal of Neuromuscular Diseases
Journal of neuromuscular diseases 7(3), 301-308 (2020). doi:10.3233/JND-200510

مصطلحات موضوعية: 0301 basic medicine, Research Report, Adult, Male, Adolescent, Turkey, Mitochondrial disease, Nonsense mutation, Consanguinity, Biology, Frameshift mutation, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, medicine, genetics [Leigh Disease], Humans, ddc:610, Leigh disease, Exome sequencing, pathology [Leigh Disease], Genetics, Massive parallel sequencing, physiopathology [Leigh Disease], Haplotype, genetics [Transcription Factors], medicine.disease, 3. Good health, Pedigree, 030104 developmental biology, Neurology, genetics [Mitochondrial Proteins], Female, diagnostic imaging [Leigh Disease], Neurology (clinical), Leigh Disease, 030217 neurology & neurosurgery, Transcription Factors

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::417982beac2ccbd99f6d157e1f298334Test
http://europepmc.org/articles/PMC7458500Test

المؤلفون: Orsetta Zuffardi, Lara Valeri, Davide Nicoli, Stefano Giuseppe Caraffi, Steven Laurie, Ilenia Maini, Livia Garavelli, Francesca Peluso, Chiara Baldo

المصدر: Genes, Vol 12, Iss 900, p 900 (2021)
Genes
Volume 12
Issue 6

مصطلحات موضوعية: 0301 basic medicine, Syndromic and non-syndromic intellectual disability, Adolescent, Genotype, Developmental Disabilities, Mutation, Missense, QH426-470, 030105 genetics & heredity, Article, NAA10-related syndrome, Craniofacial Abnormalities, 03 medical and health sciences, Epilepsy, Intellectual Disability, Intellectual disability, Genetics, Humans, Medicine, Missense mutation, Acetyltransferase complex, N-Terminal Acetyltransferase E, N-Terminal Acetyltransferase A, Genetics (clinical), Exome sequencing, business.industry, Genotype–phenotype correlation, NAA10 Gene, Genetic Diseases, X-Linked, Syndrome, medicine.disease, Xq28, Ogden Syndrome, X-linked disorder, Phenotype, 030104 developmental biology, Female, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4959820eb7a4625df7c276a2b4ba84f8Test
http://hdl.handle.net/10230/49030Test

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

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

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

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: 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: 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