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المؤلفون: Rikke Christensen, Henning Andersen, Jens Michael Hertz, Morten Duno, Uffe Birk Jensen, Kirsten Svenstrup, John Vissing, Signe Vaeth, Kasper Thorsen, Dorte L Lildballe

المصدر: Væth, S, Christensen, R, Dunø, M, Lildballe, D L, Thorsen, K, Vissing, J, Svenstrup, K, Hertz, J M, Andersen, H & Jensen, U B 2018, ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ', European Journal of Medical Genetics . https://doi.org/10.1016/j.ejmg.2018.04.003
Vaeth, S, Christensen, R, Dunø, M, Lildballe, D L, Thorsen, K, Vissing, J, Svenstrup, K, Hertz, J M, Andersen, H & Jensen, U B 2019, ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ', European Journal of Medical Genetics, vol. 62, no. 1, pp. 1-8 . https://doi.org/10.1016/j.ejmg.2018.04.003

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Massively parallel sequencing, Denmark, Disease, Computational biology, 030105 genetics & heredity, Genetic analysis, DNA sequencing, 03 medical and health sciences, symbols.namesake, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease/diagnosis, Genetics, Medicine, Humans, Genetic epidemiology, Genetic Testing, Registries, Genetics (clinical), Genetic testing, Sanger sequencing, High-Throughput Nucleotide Sequencing/methods, Massive parallel sequencing, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, General Medicine, Sequence Analysis, DNA, nervous system diseases, 030104 developmental biology, Sequence Analysis, DNA/methods, Cohort, symbols, business, Genetic Testing/methods, Facilities and Services Utilization

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e955f114ac94c1026e6a329c05d8a7fa
https://pure.au.dk/portal/da/publications/genetic-analysis-of-charcotmarietooth-disease-in-denmark-and-the-implementation-of-a-next-generation-sequencing-platform(40cc2985-ca27-4206-8714-229ccf72f436).html

المؤلفون: Massimo Carella, Fiore Manganelli, Lucio Santoro, L. Di Maio, Fabrizio Barbieri, Giorgio Casari, P. D'Adamo

المساهمون: Santoro, Lucio, Manganelli, Fiore, Di Maio, L, Barbieri, Fabrizio, Carella, M, D'Adamo, P, Casari, G., L., Santoro, F., Manganelli, Maio, L., F., Barbieri, M., Carella, D'Adamo, ADAMO PIO, G., Casari, Santoro, L, Manganelli, F, Barbieri, F, Casari, GIORGIO NEVIO

المصدر: Neuromuscular disorders : NMD. 12(4)

مصطلحات موضوعية: Male, Pathology, Paresi, complication [Charcot-Marie-Tooth Disease], Disease, Electromyography, Genetic analysis, diagnosi [Charcot-Marie-Tooth Disease], Vocal Cord Paralysis: etiology, Charcot-Marie-Tooth Disease, Child, Genetics (clinical), Paresis: genetics, genetics [Vocal Cord Paralysis], Paresis, medicine.diagnostic_test, Paresis: etiology, Middle Aged, Pedigree, Europe, Neurology, Female, medicine.symptom, Vocal Cord Paralysis, Human, Adult, Vocal Cord Paralysis: genetics, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Charcot-Marie-Tooth Disease: complications, Diaphragm, genetic [Charcot-Marie-Tooth Disease], Locus (genetics), Biology, Charcot-Marie-Tooth Disease: diagnosis, Charcot-Marie-Tooth Disease: genetics, stomatognathic system, medicine, Humans, Vocal cord paralysis, Allele, Aged, Vocal Cord Paralysi, Family Health, Genetic heterogeneity, etiology [Paresis], etiology [Vocal Cord Paralysis], medicine.disease, stomatognathic diseases, Pediatrics, Perinatology and Child Health, Neurology (clinical), genetic [Paresis]

وصف الملف: ELETTRONICO

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74c8fcf5a7962b702d4a32cb00526264
https://pubmed.ncbi.nlm.nih.gov/12062259

المؤلفون: A. De Vos, A. Van Steirteghem, C. Van Broeckhoven, Karen Sermon, Ann Löfgren, Ingeborg Liebaers

المساهمون: Educational Science, Faculty of Medicine and Pharmacy, Centre for Medical Genetics, Department of Embryology and Genetics, Medicine and Pharmacy academic/administration

المصدر: Annals of the New York Academy of Sciences

مصطلحات موضوعية: Male, business.industry, General Neuroscience, MEDLINE, Abortion, Induced, Fertilization in Vitro, Abortion, Bioinformatics, Preimplantation diagnosis, General Biochemistry, Genetics and Molecular Biology, Pedigree, Type (biology), Text mining, History and Philosophy of Science, Charcot-Marie-Tooth Disease, Charcot-Marie-Tooth Disease/diagnosis, genetic markers, Medicine, Humans, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfc21cde47a3384af096f142e72da7ff
https://hdl.handle.net/20.500.14017/3cbc75f0-0c9d-48df-999c-552aa2f6ab59

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المصدر: Vaeth , S , Christensen , R , Dunø , M , Lildballe , D L , Thorsen , K , Vissing , J , Svenstrup , K , Hertz , J M , Andersen , H & Jensen , U B 2019 , ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ' , European Journal of Medical Genetics , vol. 62 , no. 1 , pp. 1-8 .

مصطلحات الفهرس: Charcot-Marie-Tooth Disease/diagnosis, Denmark, Facilities and Services Utilization, Genetic Testing/methods, High-Throughput Nucleotide Sequencing/methods, Humans, Registries, Sequence Analysis, DNA/methods, article

URL: https://curis.ku.dk/portal/da/publications/genetic-analysis-of-charcotmarietooth-disease-in-denmark-and-the-implementation-of-a-next-generation-sequencing-platform(d8647825-8778-4144-b118-126b9cecf4e1).html
https://doi.org/10.1016/j.ejmg.2018.04.003
https://curis.ku.dk/ws/files/251255338/Genetic_analysis_of_Charcot_Marie_Tooth_disease_in_Denmark_and_the_implementation_of_a.PDF

المصدر: Vaeth , S , Christensen , R , Dunø , M , Lildballe , D L , Thorsen , K , Vissing , J , Svenstrup , K , Hertz , J M , Andersen , H & Jensen , U B 2019 , ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ' , European Journal of Medical Genetics , vol. 62 , no. 1 , pp. 1-8 .

مصطلحات الفهرس: Charcot-Marie-Tooth Disease/diagnosis, Denmark, Facilities and Services Utilization, Genetic Testing/methods, High-Throughput Nucleotide Sequencing/methods, Humans, Registries, Sequence Analysis, DNA/methods, article

المصدر: Vaeth , S , Christensen , R , Dunø , M , Lildballe , D L , Thorsen , K , Vissing , J , Svenstrup , K , Hertz , J M , Andersen , H & Jensen , U B 2019 , ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ' , European Journal of Medical Genetics , vol. 62 , no. 1 , pp. 1-8 .

مصطلحات الفهرس: Charcot-Marie-Tooth Disease/diagnosis, Denmark, Facilities and Services Utilization, Genetic Testing/methods, High-Throughput Nucleotide Sequencing/methods, Humans, Registries, Sequence Analysis, DNA/methods, article

URL: https://curis.ku.dk/portal/da/publications/genetic-analysis-of-charcotmarietooth-disease-in-denmark-and-the-implementation-of-a-next-generation-sequencing-platform(d8647825-8778-4144-b118-126b9cecf4e1).html
https://doi.org/10.1016/j.ejmg.2018.04.003
https://curis.ku.dk/ws/files/251255338/Genetic_analysis_of_Charcot_Marie_Tooth_disease_in_Denmark_and_the_implementation_of_a.PDF