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Loss-of-function mutations in the immunoglobulin superfamily member 1 gene (IGSF1) cause a novel, X-linked syndrome of central hypothyroidism and testicular enlargement

Autor: Schoenmakers, N., Sun, Y., Bak, B., Trotsenburg, A.S.P. van, Oostdijk, W., Voshol, P., Cambridge, E., White, J.K., Tissier, P. le, Gharavy, S.N.M., Martinez-Barbera, J.P., Stokvis-Brantsma, W.H., Vulsma, T., Kempers, M.J., Persani, L., Campi, I., Bonomi, M., Beck-Peccoz, P., Zhu, H., Davis, T.M.E., Hokken-Koelega, A.C.S., Blanco, D.G. del, Rangasami, J.J., Ruivenkamp, C.A.L., Laros, J.F.J., Kriek, M., Kant, S.G., Bosch, C.A.J., Biermasz, N.R., Appelman-Dijkstra, N.M., Corssmit, E.P., Hovens, G.C.J., Pereira, A.M., Dunnen, J.T. den, Wade, M.G., Breuning, M.H., Hennekam, R.C., Dattani, M.T., Wit, J.M., Bernard, D.J., Chatterjee, K.

Publikováno v: Lancet (UK), 381, 15-15. Elsevier Ltd.
ResearcherID
Lancet, 381, 15-15

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::117f7c9336975b721e91ed8454c3f8cc
https://hdl.handle.net/1887/103121

Quality of life, course of life and self-perception of young adults with congenital Hypothyroidism diagnosed by neonatal screening

Autor: van der Sluijs Veer, L., Kempers, M.J., Last, B.F., Vulsma, T., Grootenhuis, M.A.

Publikováno v: van der Sluijs Veer, L, Kempers, M J, Last, B F, Vulsma, T & Grootenhuis, M A 2007, ' Quality of life, course of life and self-perception of young adults with congenital Hypothyroidism diagnosed by neonatal screening ', 7e Wetenschapssymposium EKZ‘Wetenschap over Grenzen’, 1/01/07-1/01/07 pp. 919-924 .
STARTPAGE=919;ENDPAGE=924;TITLE=7e Wetenschapssymposium EKZ‘Wetenschap over Grenzen’

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::290429dc621fadb983cf4d96e58562cf
https://research.vu.nl/en/publications/4f6c471a-58eb-4294-9880-812b7f58ae81

Animal Models, Pathogenesis, and Potential Treatment of Thoracic Aortic Aneurysm.

Autor: Wang, Yutang¹ (AUTHOR) indu.p@federation.edu.au, Panicker, Indu S.¹ (AUTHOR), Anesi, Jack¹ (AUTHOR), Sargisson, Owen¹ (AUTHOR), Atchison, Benjamin¹ (AUTHOR), Habenicht, Andreas J. R.² (AUTHOR) andreas.habenicht@med.uni-muenchen.de

Publikováno v: International Journal of Molecular Sciences. Jan2024, Vol. 25 Issue 2, p901. 27p.

Influence of Genetic Polymorphisms on the Age at Cancer Diagnosis in a Homogenous Lynch Syndrome Cohort of Individuals Carrying the MLH1 :c.1528C>T South African Founder Variant.

Autor: Ndou, Lutricia, Chambuso, Ramadhani, Algar, Ursula, Goldberg, Paul, Boutall, Adam, Ramesar, Raj

Publikováno v: Biomedicines; Oct2024, Vol. 12 Issue 10, p2201, 17p