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Akademický článek

Complement C4 Phenotypes in Dementia of the Alzheimer Type

Autor: Eikelenboom, P., Goetz, J., Pronk, J.C., Hauptmann, G.

Publikováno v: Human Heredity, 1988 Jan 01. 38(1), 48-51.

Externí odkaz: https://www.jstor.org/stable/45102173

Megalencephallic leukoencephalopathy with subcortical cysts: An update and extended mutation analysis of MLC1

Autor: Boor, Ilja P.K., de Groot, K., Mejaški-Bošnjak, Vlatka, Brenner, C., van der Knaap, M.S., Scheper, G.C., Pronk, J.C.

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive cerebral white matter disorder in children. This disease is histopathologically characterized by myelin splitting and intramyelinic vacuole formation. MLC is c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::652e1641953977e99c72ffde950f8496
https://www.bib.irb.hr/284016

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Evidence for at least 8 Fanconi anemia genes

Autor: Joenje, H., Oostra, A.B., Wijker, M., Di Summa, F., van Berkel, C., Ebell, W., van Weel, M., Pronk, J.C., Buchwald, M., Arwert, F.

Publikováno v: Joenje, H, Oostra, A B, Wijker, M, Di Summa, F, van Berkel, C, Ebell, W, van Weel, M, Pronk, J C, Buchwald, M & Arwert, F 1997, ' Evidence for at least 8 Fanconi anemia genes ', American journal of human genetics, vol. 61, pp. 940-944 . https://doi.org/10.1086/514881
American journal of human genetics, 61, 940-944. Cell Press

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d6388b6fe934ec591b3f59b3df5705a9
https://research.vumc.nl/en/publications/4fd09121-1ac5-4842-8e25-53fb063095f4

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