المؤلفون: Kaiyrzhanov, R., Mohammed, S.E.M., Maroofian, R., Husain, R.A., Catania, A., Torraco, A., Alahmad, A., Dutra-Clarke, M., Grønborg, S., Sudarsanam, A., Vogt, J., Arrigoni, F., Baptista, J., Haider, S., Feichtinger, R.G., Bernardi, P., Zulian, A., Gusic, M., Efthymiou, S., Bai, R., Bibi, F., Horga, A., Martinez-Agosto, J.A., Lam, A., Manole, A., Rodriguez, D.P., Durigon, R., Pyle, A., Albash, B., Dionisi-Vici, C., Murphy, D., Martinelli, D., Bugiardini, E., Allis, K., Lamperti, C., Reipert, S., Risom, L., Laugwitz, L., Di Nottia, M., McFarland, R., Vilarinho, L., Hanna, M., Prokisch, H., Mayr, J.A., Bertini, E.S., Ghezzi, D., Østergaard, E., Wortmann, S., Carrozzo, R., Haack, T.B., Taylor, R.W., Spinazzola, A., Nowikovsky, K., Houlden, H.

المصدر: Am. J. Hum. Genet. 109, 1692-1712 (2022)

مصطلحات موضوعية: Genetics, Letm1, Mitochondria, Mitochondrial Diseases, Neurodegeneration, Neurology, Oxidative Phosphorylation, Potassium Transport, Volume Homeostasis, Wolf-hirschhorn Syndrome

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/36055214; info:eu-repo/semantics/altIdentifier/wos/WOS:000877624100011; info:eu-repo/semantics/altIdentifier/isbn/0002-9297; info:eu-repo/semantics; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test; urn:isbn:0002-9297; urn:issn:0002-9297; urn:issn:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2022.07.007Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=66080Test

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: Schepers, D. (Dorien), Tortora, G. (Giada), Morisaki, H. (Hiroko), Maccarrick, G. (Gretchen), Lindsay, M. (Mark), Liang, D. (David), Mehta, S.G. (Sarju G.), Hague, J. (Jennifer), Verhagen, J.M.A. (Judith), Laar, I.M.B.H. (Ingrid) van de, Wessels, M.W. (Marja), Detisch, Y. (Yvonne), Haelst, M.M. (Mieke) van, Baas, A.F. (Annette), Lichtenbelt, K.D. (Klaske), Braun, K. (Kees), Linde, D. (Denise) van der, Roos-Hesselink, J.W. (Jolien), McGillivray, G. (George), Meester, J. (Josephina), Maystadt, I. (Isabelle), Coucke, P. (Paul), El-Khoury, E. (Elie), Parkash, S. (Sandhya), Diness, B. (Birgitte), Risom, L. (Lotte), Scurr, I. (Ingrid), Hilhorst-Hofstee, Y. (Yvonne), Morisaki, T. (Takayuki), Richer, J. (Julie), Desir, J.P., Kempers, M.J.E. (Marlies), Rideout, A.L. (Andrea L.), Horne, G. (Gabrielle), Bennett, C. (Chris), Rahikkala, E. (Elisa), Vandeweyer, G. (Geert), Alaerts, M. (Maaike), Verstraeten, A. (Aline), Dietz, H. (Hal), Van Laer, L. (Lut), Loeys, B.L. (Bart)

المصدر: Human Mutation

مصطلحات موضوعية: Aneurysm, Loeys-Dietz syndrome, SMAD2, SMAD3, TGFB2, TGFB3

وصف الملف: application/pdf

العلاقة: info:eu-repo/grantAgreement/EC/ERC/309792; http://repub.eur.nl/pub/105170Test; urn:hdl:1765/105170

الإتاحة: https://doi.org/10.1002/humu.23407Test
http://repub.eur.nl/pub/105170Test

المؤلفون: Shinar, Y, Obici, L, Aksentijevich, I, Bennetts, B, Austrup, F, Ceccherini, I, Costa, J M, De Leener, A, Gattorno, M, Kania, U, Kone-Paut, I, Lezer, S, Livneh, A, Moix, I, Nishikomori, R, Ozen, S, Phylactou, L, Risom, L, Rowczenio, D, Sarkisian, T, van Gijn, M E, Witsch-Baumgartner, M, Morris, M, Hoffman, H M, Touitou, I

مصطلحات موضوعية: Recommendation

وصف الملف: text/html

العلاقة: http://ard.bmj.com/cgi/content/short/annrheumdis-2011-201271v2Test; http://dx.doi.org/10.1136/annrheumdis-2011-201271Test

الإتاحة: https://doi.org/10.1136/annrheumdis-2011-201271Test
http://ard.bmj.com/cgi/content/short/annrheumdis-2011-201271v2Test

المؤلفون: Ceccherini, I., Nishikomori, R., Moix, I., Livneh, A., Lezer, S., Kone-Paut, I., Kania, U., Gattorno, M., De Leener, A., Costa, J. M., Austrup, F., Bennetts, B., Aksentijevich, I., Obici, L., Shinar, Y., Rowczenio, D., Touitou, I., Hoffman, H. M., Morris, M., Witsch-Baumgartner, M., van Gijn, M. E., Sarkisian, T., Risom, L., Phylactou, L., Ozen, S.

العلاقة: 8d92fd85-6c04-4e83-969f-2cb21ad09d82; https://avesis.hacettepe.edu.tr/publication/details/8d92fd85-6c04-4e83-969f-2cb21ad09d82/oaiTest

الإتاحة: https://doi.org/10.1136/annrheumdis-2011-201271Test
https://avesis.hacettepe.edu.tr/publication/details/8d92fd85-6c04-4e83-969f-2cb21ad09d82/oaiTest

المؤلفون: Aziz, S., Hermann, N. V., Dunø, M., Risom, L., Daugaard-Jensen, J., Kreiborg, S.

المصدر: Aziz , S , Hermann , N V , Dunø , M , Risom , L , Daugaard-Jensen , J & Kreiborg , S 2019 , ' Primary failure of eruption of teeth in two siblings with a novel mutation in the PTH1R gene ' , European Archives of Paediatric Dentistry , vol. 20 , no. 3 , pp. 295-300 . https://doi.org/10.1007/s40368-018-00410-8Test

مصطلحات موضوعية: Failure of eruption, Primary second molars, Eruption disturbances, PTH1R

الإتاحة: https://doi.org/10.1007/s40368-018-00410-8Test
https://curis.ku.dk/portal/da/publications/primary-failure-of-eruption-of-teeth-in-two-siblings-with-a-novel-mutation-in-the-pth1r-geneTest(6cf11fec-81ca-48bb-b407-50d082ed0c95).html

المؤلفون: Daugaard-Jensen, Jette, Risom, L, Kreiborg, Sven, Hove, HD, Dunø, M

المصدر: Daugaard-Jensen , J , Risom , L , Kreiborg , S , Hove , HD & Dunø , M 2012 , ' Arrested eruption of permanent teeth. Identification of 6 novel mutations in PTH1R. ' .

الإتاحة: https://curis.ku.dk/portal/da/publications/arrested-eruption-of-permanent-teeth-identification-of-6-novel-mutations-in-pth1rTest(8708f939-b14d-40d8-be10-40623b3de8a0).html

المؤلفون: Loft, S., Vogel, Ulla Birgitte, Risom, L., Moller, P., Dybdal, M., Jensen, B.R., Dragsted, L., Poulsen, H.E., Sandstrom, B., Pedersen, A., Wallin, H.

المصدر: Loft , S , Vogel , U B , Risom , L , Moller , P , Dybdal , M , Jensen , B R , Dragsted , L , Poulsen , H E , Sandstrom , B , Pedersen , A & Wallin , H 2002 , ' Oxidative DNA damage and expression of DNA repair enzymes ' , Free Radical Biology and Medicine , vol. 33 , no. Suppl. 1 , pp. S248-S249 .

العلاقة: https://orbit.dtu.dk/en/publications/7fa4ff41-5cfb-461e-9186-821a4894f8e4Test

الإتاحة: https://orbit.dtu.dk/en/publications/7fa4ff41-5cfb-461e-9186-821a4894f8e4Test

المؤلفون: Hadrup, N., Petersen, J.S., Windfeld, S., Risom, L., C.B., Andersen, Nielsen, Søren, Christensen, S., Jonassen, T.E.

المصدر: Hadrup , N , Petersen , J S , Windfeld , S , Risom , L , C.B. , A , Nielsen , S , Christensen , S & Jonassen , T E 2007 , ' Differential down-regulation of aquaporin-2 in rat kidney zones by peripheral nociceptin/orphanin FQ receptor agonism and vasopressin type-2 receptor antagonism ' , J. Pharmacol. Exp. Ther. , vol. 323 , no. 2 , pp. 516-24 .

الإتاحة: https://pure.au.dk/portal/da/publications/differential-downregulation-of-aquaporin2-in-rat-kidney-zones-by-peripheral-nociceptinorphanin-fq-receptor-agonism-and-vasopressin-type2-receptor-antagonismTest(8456c800-ce69-11dc-abe4-000ea68e967b).html

المؤلفون: RISOM, L, MOLLER, P, DYBDAHL, M, VOGEL, U, WALLIN, H, LOFT, S

المصدر: Toxicology Letters ; volume 175, issue 1-3, page 16-23 ; ISSN 0378-4274

مصطلحات موضوعية: Toxicology, General Medicine

الإتاحة: https://doi.org/10.1016/j.toxlet.2007.09.003Test
https://api.elsevier.com/content/article/PII:S0378427407009617?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0378427407009617?httpAccept=text/plainTest