المؤلفون: Shepherdson, J.L., Hutchison, K., Don, D.W., McGillivray, G., Choi, T.-I., Allan, C.A., Amor, D.J., Banka, S., Basel, D.G., Buch, L.D., Carere, D.A., Carroll, R., Clayton-Smith, J., Crawford, A., Dunø, M., Faivre, L., Gilfillan, C.P., Gold, N.B., Gripp, K.W., Hobson, E.

المصدر: http://dx.doi.org/10.1016/j.ajhg.2024.01.007Test.

مصطلحات موضوعية: Genomics England Research Consortium

العلاقة: http://purl.org/au-research/grants/nhmrc/1041920Test; American Journal of Human Genetics, 2024; 111(3):487-508; https://hdl.handle.net/2440/140708Test; Corbett, M.A. [0000-0001-9298-3072]; Gecz, J. [0000-0002-7884-6861]

الإتاحة: https://doi.org/10.1016/j.ajhg.2024.01.007Test
https://hdl.handle.net/2440/140708Test

المؤلفون: Roos, P, Johannsen, P, Lindquist, SG, Brown, JM, Waldemar, G, Duno, M, Nielsen, TT, Budtz-Jørgensen, E, Gydesen, S, Holm, IE, Collinge, J, Isaacs, AM, Frontotemporal dementia Research in Jutland Association (FReJA), Nielsen, JE

المصدر: Acta Neurologica Scandinavica , 145 (5) pp. 529-540. (2022)

مصطلحات موضوعية: CHMP2B, Frontotemporal Dementia, Hereditary degenerative disorders

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10141652/1/Collinge_Manuscript%2026nov2021.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10141652Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10141652/1/Collinge_Manuscript%2026nov2021.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10141652Test/

المؤلفون: Rosengren, T, Nanhoe, Santoesha, Dufner de Almeida, Luiz, Schonewolf-Greulich, B, Larsen, LJ, Hey, CAB, Duno, M, Ek, J, Risom, L, Nellist, Mark, Moller, LB

المصدر: Rosengren , T , Nanhoe , S , Dufner de Almeida , L , Schonewolf-Greulich , B , Larsen , LJ , Hey , CAB , Duno , M , Ek , J , Risom , L , Nellist , M & Moller , LB 2020 , ' Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex ' , Scientific Reports , vol. 10 , no. 1 , 9909 . https://doi.org/10.1038/s41598-020-66588-4Test

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41598-020-66588-4Test
https://pure.eur.nl/en/publications/86e1ca61-e687-412e-99a1-6ea4bb0d373dTest
https://pure.eur.nl/ws/files/48348237/Repub_128049_O-A.pdfTest
http://hdl.handle.net/1765/128049Test

المؤلفون: Naume, M., Zhao, Q., Haslund-Krog, S., Krag, T., de Winter, B., Revsbeck, K., Vissing, J., Holst, H., Møller, M., Hornsyld, T., Dunø, M., Høi-Hansen, C., Born, A., Andersen, P., Ørngreen, M.

المصدر: Neuromuscular Disorders ; volume 33, page S86-S87 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.090Test
https://api.elsevier.com/content/article/PII:S0960896623002705?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623002705?httpAccept=text/plainTest

المؤلفون: Slipsager, A., Hildonen, M., Stemmerik, M Godtfeldt, Tümer, Z., Dunø, M., Birkedal, U., Vissing, J.

المصدر: Neuromuscular Disorders ; volume 33, page S155 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.350Test
https://api.elsevier.com/content/article/PII:S0960896623005308?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623005308?httpAccept=text/plainTest

المؤلفون: Lyu, Z., Poulsen, N., Joensen, H., Lando, C., Dunø, M., Bundgaard, H., Vejlstrup, N., Vissing, J.

المصدر: Neuromuscular Disorders ; volume 33, page S80-S81 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.068Test
https://api.elsevier.com/content/article/PII:S0960896623002481?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623002481?httpAccept=text/plainTest

المؤلفون: Høj, A., Løkken, N., Holm-Yildiz, SD., Krag, T., Dejanovic, D., van Overeem Hansen, T., Dunø, M., Ørngreen, M Cathrine, Vissing, J.

المصدر: Neuromuscular Disorders ; volume 33, page S183 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.07.459Test
https://api.elsevier.com/content/article/PII:S0960896623006399?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623006399?httpAccept=text/plainTest

المؤلفون: Lind-Holst M. (12039419), Bækvad-Hansen M. (12039422), Berglund A. (12039425), Cohen A.S. (12039428), Melgaard L. (12039431), Skogstrand K. (4273204), Duno M. (12039434), Main K.M. (12039437), Hougaard D.M. (4158247), Gravholt C.H. (12039440), Hansen D. (12039443)

مصطلحات موضوعية: Medicine

العلاقة: https://figshare.com/articles/dataset/Supplementary_Material_for_Neonatal_Screening_for_Congenital_Adrenal_Hyperplasia_in_Denmark_10_Years_of_Experience/19114355Test

الإتاحة: https://doi.org/10.6084/m9.figshare.19114355.v1Test

المؤلفون: Lund, M, Melbye, M, Diaz, L J, Dunø, M., Wohlfahrt, J, Vissing, J

المصدر: Lund , M , Melbye , M , Diaz , L J , Dunø , M , Wohlfahrt , J & Vissing , J 2015 , ' Mitochondrial dysfunction and risk of cancer ' , B J C , vol. 112 , no. 6 , pp. 1134-40 . https://doi.org/10.1038/bjc.2015.66Test

مصطلحات موضوعية: Adolescent, Adult, Cohort Studies, DNA, Mitochondrial, Female, Genetic Testing, Humans, Incidence, Male, Middle Aged, Mitochondria, Mitochondrial Diseases, Mutation, Neoplasms, Risk, Risk Factors, Young Adult

الإتاحة: https://doi.org/10.1038/bjc.2015.66Test
https://curis.ku.dk/portal/da/publications/mitochondrial-dysfunction-and-risk-of-cancerTest(7ceb149b-a30f-4561-bdf6-7495e5ecfb72).html

المؤلفون: Schultz, A.N.Ø., Høiby, N., Nielsen, X.C., Pressler, T., Dalhoff, K., Duno, M., Buchard, A., Johansen, H.K., Dalbøge, C.S.

المصدر: Journal of Cystic Fibrosis ; volume 14, page S86 ; ISSN 1569-1993

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/s1569-1993Test(15)30293-9
https://api.elsevier.com/content/article/PII:S1569199315302939?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1569199315302939?httpAccept=text/plainTest