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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 -
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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, 5مصطلحات 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 -
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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-200510مصطلحات 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 -
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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 -
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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 6مصطلحات 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 -
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المؤلفون: Sabrina Giglio, Allan Bayat, Helen Stewart, Steven Laurie, Livia Garavelli, Renata Rizzo, Marzia Pollazzon, Chiara Baldo, Janice Baker, Chiara Pantaleoni, Simonetta Rosato, Anna Lauriello, Ivan Ivanovski, Aldesia Provenzano, Orsetta Zuffardi, Elena Andreucci, Teresa Mattina, Alyssa Mendel, Davide Nicoli, Giorgia Carboni, Manuela Napoli, Stefano Giuseppe Caraffi, Francesca Peluso, Gabriele Trimarchi, Josue Flores-Daboub, Paolo Prontera, Ilenia Maini, Maria Marinelli, Nancy J. Mendelsohn, Katherine Lachlan, Gianluca Piatelli, Sara Giangiobbe
المصدر: Giangiobbe, S, Caraffi, S G, Ivanovski, I, Maini, I, Pollazzon, M, Rosato, S, Trimarchi, G, Lauriello, A, Marinelli, M, Nicoli, D, Baldo, C, Laurie, S, Flores-Daboub, J, Provenzano, A, Andreucci, E, Peluso, F, Rizzo, R, Stewart, H, Lachlan, K, Bayat, A, Napoli, M, Carboni, G, Baker, J, Mendel, A, Piatelli, G, Pantaleoni, C, Mattina, T, Prontera, P, Mendelsohn, N J, Giglio, S, Zuffardi, O & Garavelli, L 2020, ' Expanding the phenotype of Wiedemann-Steiner syndrome : Craniovertebral junction anomalies ', American Journal of Medical Genetics, Part A, vol. 182, no. 12, pp. 2877-2886 . https://doi.org/10.1002/ajmg.a.61859Test
مصطلحات موضوعية: Adult, Male, Hypertrichosis, Pathology, medicine.medical_specialty, Contracture, Wiedemann–Steiner syndrome, Adolescent, Chiari malformation, Short stature, cervical C2/C3 vertebral fusion, Young Adult, Intellectual Disability, Genetics, medicine, Humans, Abnormalities, Multiple, craniovertebral junction, Epigenetics, Child, Growth Disorders, Genetics (clinical), Loss function, small foramen magnum, biology, business.industry, Facies, Histone-Lysine N-Methyltransferase, Syndrome, KMT2A, medicine.disease, Phenotype, medicine.anatomical_structure, Wiedemann-Steiner syndrome, Child, Preschool, Mutation, Cervical Vertebrae, Microcephaly, biology.protein, Female, medicine.symptom, business, Myeloid-Lymphoid Leukemia Protein, Cervical vertebrae
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ab3754ed745942da035c6ccf40fb9bTest
https://findresearcher.sdu.dk:8443/ws/files/174125064/ajmg.a.61859.pdfTest -
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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 -
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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 -
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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 -
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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