المؤلفون: Malej A, Avbelj Stefanija M, Bratanič N, Trebušak Podkrajšek K

المصدر: Balkan Journal of Medical Genetics, Vol 23, Iss 2, Pp 87-92 (2021)

مصطلحات موضوعية: activating variant, familial non-autoimmune hyperthyroidism (fnah), thyrotropin receptor, tshr gene, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1311-0160

URL الوصول: https://doaj.org/article/d104b5f966194538a010e8031ce5642e

المؤلفون: Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, Karakoc-Aydiner E, Riviere JG, Garcia-Prat M, Moes N, Haerynck F, Gonzales-Granado LI, Santos Perez JL, Mukhina A, Shcherbina A, Aghamohammadi A, Hammarstrom L, Dogu F, Haskologlu S, Ikinciogullari AI, Kostel Bal S, Baris S, Kilic SS, Karaca NE, Kutukculer N, Girschick H, Kolios A, Keles S, Uygun V, Stepensky P, Worth A, van Montfrans JM, Peters AMJ, Meyts I, Adeli M, Marzollo A, Padem N, Khojah AM, Chavoshzadeh Z, Avbelj Stefanija M, Bakhtiar S, Florkin B, Meeths M, Gamez L, Grimbacher B, Seppanen MRJ, Lankester A, Gennery AR, Seidel MG

المصدر: Journal of Allergy and Clinical Immunology, 2020

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/263752; https://eprints.ncl.ac.uk/fulltext.aspx?url=263752/3BF4B90D-A406-4907-8CAA-4BDF30BC1384.pdf&pub_id=263752

الاتاحة: https://eprints.ncl.ac.uk/263752

المؤلفون: Persani L, Cools M, Ioakim S, Ahmed SF, Andonova S, Avbelj-Stefanija M, Baronio F, Bouligand J, et al

مصطلحات موضوعية: congenital hypogonadotropic hypogonadism, disorders of sex development, next-generation sequencing, primary ovarian insufficiency, rare diseases or syndromes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______2659::1141e000db7e79dd3484d9d161947f18
https://zenodo.org/record/7554351

المؤلفون: Avbelj Stefanija, M., Jeanpierre, M., Sykiotis, G.P., Young, J., Quinton, R., Abreu, A.P., Plummer, L., Au, M.G., Balasubramanian, R., Dwyer, A.A., Florez, J.C., Cheetham, T., Pearce, S.H., Purushothaman, R., Schinzel, A., Pugeat, M., Jacobson-Dickman, E.E., Ten, S., Latronico, A.C., Gusella, J.F., Dode, C., Crowley, W.F., Pitteloud, N.

المصدر: Human Molecular Genetics, vol. 21, no. 19, pp. 4314-4324

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/22773735; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_6D77B428DE1B9; https://serval.unil.ch/notice/serval:BIB_6D77B428DE1B; https://serval.unil.ch/resource/serval:BIB_6D77B428DE1B.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_6D77B428DE1B
https://doi.org/10.1093/hmg/dds264
https://serval.unil.ch/resource/serval:BIB_6D77B428DE1B.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_6D77B428DE1B9

المؤلفون: Stavber, L, Hovnik, T, Kotnik, P, Lovrečić, L, Kovač, J, Tesovnik, T, Bertok, S, Dovč, K, Debeljak, M, Battelino, T, Avbelj Stefanija, M

المصدر: European Journal of Endocrinology ; volume 182, issue 3, page 243-253 ; ISSN 0804-4643 1479-683X

الاتاحة: http://dx.doi.org/10.1530/eje-19-0771
https://eje.bioscientifica.com/view/journals/eje/182/3/EJE-19-0771.xml
https://eje.bioscientifica.com/downloadpdf/journals/eje/182/3/EJE-19-0771.xml

المؤلفون: Malej, A, Avbelj Stefanija, M, Bratanič, N, Trebušak Podkrajšek, K

المصدر: Balkan Journal of Medical Genetics; 2020, Vol. 23 Issue 2, p87-92, 6p

مصطلحات موضوعية: THYROTROPIN receptors, GENES, HYPERTHYROIDISM, CARDIOLOGICAL manifestations of general diseases, HEART failure, GENETIC mutation, CREUTZFELDT-Jakob disease

المؤلفون: Bailey, C., Heise, T., Castle, J., Beck, R., Hirsch, I., Gillon-Keren, M., Renard, E., Šuput Omladič, J., Bratina, N., Battelino, T., Avbelj Stefanija, M., Vovk, A., Slana Ozimič, A., Repovž, G., Weinzimer, S., Ciaccio, M., Bellia, C., Schatz, D., Pickup, J., Garg, S.

المصدر: Diabetes Technology & Therapeutics; 2019 Suplement 1, Vol. 21, pA-1-A-164, 164p