المؤلفون: Svenstrup, Kirsten, Nielsen, Troels Tolstrup, Aidt, Frederik, Rostgaard, Nina, Duno, Morten, Wibrand, Flemming, Vinther-Jensen, Tua, Law, Ian, Vissing, John, Roos, Peter, Hjermind, Lena Elisabeth, Nielsen, Jørgen Erik

المصدر: The Cerebellum. February 2017 16(1):62-67

المؤلفون: Hagen, Christian M., Elson, Joanna L., Hedley, Paula L., Aidt, Frederik H., Havndrup, Ole, Jensen, Morten K., Kanters, Jørgen K., Atherton, John J., McGaughran, Julie, Bundgaard, Henning, Christiansen, Michael

المصدر: Hagen , C M , Elson , J L , Hedley , P L , Aidt , F H , Havndrup , O , Jensen , M K , Kanters , J K , Atherton , J J , McGaughran , J , Bundgaard , H & Christiansen , M 2020 , ' Evolutionary dissection of mtDNA hg H : a susceptibility factor for hypertrophic cardiomyopathy ' , Mitochondrial DNA Part A: DNA Mapping, Sequencing, and Analysis , vol. 31 , no. 6 , pp. 238-244 .

مصطلحات الفهرس: Haplogroup and MutPred, Hypertrophic cardiomyopathy, mtDNA, article

URL: https://curis.ku.dk/portal/da/publications/evolutionary-dissection-of-mtdna-hg-h(8aed695b-f83a-4bdf-b05d-2e3fdcf50dea).html
https://doi.org/10.1080/24701394.2020.1782897

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المؤلفون: Svenstrup, Kirsten, Nielsen, Troels Tolstrup, Aidt, Frederik, Rostgaard, Nina, Duno, Morten, Wibrand, Flemming, Vinther-Jensen, Tua, Law, Ian, Vissing, John, Roos, Peter, Hjermind, Lena Elisabeth, Nielsen, Jørgen Erik

المصدر: Svenstrup , K , Nielsen , T T , Aidt , F , Rostgaard , N , Duno , M , Wibrand , F , Vinther-Jensen , T , Law , I , Vissing , J , Roos , P , Hjermind , L E & Nielsen , J E 2017 , ' SCA28 : Novel Mutation in the AFG3L2 Proteolytic Domain Causes a Mild Cerebellar Syndrome with Selective Type-1 Muscle Fiber Atrophy ' , The Cerebellum , vol. 16 , no. 1 , pp. 62-67 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/sca28(23e166c8-884d-4469-bdb2-1b56826003bf).html
https://doi.org/10.1007/s12311-016-0765-1

المؤلفون: Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jensen, Morten K, Kanters, Jørgen K, Pham, Tam T, Bundgaard, Henning, Christiansen, Michael

المصدر: Hagen , C M , Aidt , F H , Havndrup , O , Hedley , P L , Jensen , M K , Kanters , J K , Pham , T T , Bundgaard , H & Christiansen , M 2015 , ' Private mitochondrial DNA variants in danish patients with hypertrophic cardiomyopathy ' , PLOS ONE , vol. 10 , no. 4 , e0124540 , pp. 1-15 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/private-mitochondrial-dna-variants-in-danish-patients-with-hypertrophic-cardiomyopathy(4428507b-8dcf-4ae8-ad36-0ac6f80e1c5e).html
https://doi.org/10.1371/journal.pone.0124540

المؤلفون: Christiansen, Michael, Hedley, Paula L., Theilade, Juliane, Stoevring, Birgitte, Leren, Trond P., Eschen, Ole, Sørensen, Karina M., Tybjærg-Hansen, Anne, Ousager, Lilian B., Pedersen, Lisbeth N., Frikke-Schmidt, Ruth, Aidt, Frederik H., Hansen, Michael G, Hansen, Jim, Bloch Thomsen, Poul E, Toft, Egon, Henriksen, Finn L, Bundgaard, Henning, Jensen, Henrik K, Kanters, Jørgen K.

المصدر: Christiansen , M , Hedley , P L , Theilade , J , Stoevring , B , Leren , T P , Eschen , O , Sørensen , K M , Tybjærg-Hansen , A , Ousager , L B , Pedersen , L N , Frikke-Schmidt , R , Aidt , F H , Hansen , M G , Hansen , J , Bloch Thomsen , P E , Toft , E , Henriksen , F L , Bundgaard , H , Jensen , H K & Kanters , J K 2014 , ' Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2 ' , BMC Medical Genetics , vol. 15 , 31 .

مصطلحات الفهرس: Case-Control Studies, DNA Mutational Analysis, Denmark, Ether-A-Go-Go Potassium Channels, Female, Founder Effect, Genetic Association Studies, Genetic Predisposition to Disease, Haplotypes, Humans, KCNQ1 Potassium Channel, Long QT Syndrome, Male, Microsatellite Repeats, Mutation, Missense, NAV1.5 Voltage-Gated Sodium Channel, Potassium Channels, Voltage-Gated, article

URL: https://curis.ku.dk/portal/da/publications/mutations-in-danish-patients-with-long-qt-syndrome-and-the-identification-of-a-large-founder-family-with-pf29l-in-kcnh2(2c66832e-b799-4fe5-9b66-bbaee25e62b0).html
https://doi.org/10.1186/1471-2350-15-31

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المؤلفون: Aidt, Frederik Heurlin

المصدر: Aidt , F H 2013 , Mechanisms of conformational disease in excitable tissue .

مصطلحات الفهرس: book

URL: https://curis.ku.dk/portal/da/publications/mechanisms-of-conformational-disease-in-excitable-tissue(e44f22f7-0021-4be4-bbe8-72a8529bf940).html

المؤلفون: Hedley, Paula L, Kanters, Jørgen K., Dembic, Maja, Jespersen, Thomas, Skibsbye, Lasse, Aidt, Frederik H, Eschen, Ole, Graff, Claus, Behr, Elijah R, Schlamowitz, Sarah, Corfield, Valerie, McKenna, William J, Christiansen, Michael

المصدر: Hedley , P L , Kanters , J K , Dembic , M , Jespersen , T , Skibsbye , L , Aidt , F H , Eschen , O , Graff , C , Behr , E R , Schlamowitz , S , Corfield , V , McKenna , W J & Christiansen , M 2013 , ' The role of CAV3 in long-QT syndrome : clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote ' , Circulation: Cardiovascular Genetics , vol. 6 , no. 5 , pp. 452-61 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/the-role-of-cav3-in-longqt-syndrome(bc60d0f7-0ec2-4713-b0e6-bdacdbd6f3dd).html
https://doi.org/10.1161/CIRCGENETICS.113.000137

المؤلفون: Hagen, Christian M, Aidt, Frederik H, Havndrup, Ole, Hedley, Paula L, Jespersgaard, Cathrine, Jensen, Morten, Kanters, Jørgen K., Moolman-Smook, Johanna C, Møller, Daniel V, Bundgaard, Henning, Christiansen, Michael

المصدر: Hagen , C M , Aidt , F H , Havndrup , O , Hedley , P L , Jespersgaard , C , Jensen , M , Kanters , J K , Moolman-Smook , J C , Møller , D V , Bundgaard , H & Christiansen , M 2013 , ' Corrigendum : MT-CYB mutations in hypertrophic cardiomyopathy ' , Molecular genetics & genomic medicine , vol. 1 , no. 3 , pp. 187 .

مصطلحات الفهرس: article

URL: https://curis.ku.dk/portal/da/publications/corrigendum(cc6a21c2-cc50-41d7-ab27-bac42d396d2f).html
https://doi.org/10.1002/mgg3.29