Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Lombardi, M. Paola"'
Autor:
van Peer, Sophie E., Kuiper, Roland P., Hol, Janna A., Egging, Sanne, van der Zwaag, Bert, Lilien, Marc R., Lombardi, M. Paola, van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J.
Publikováno v:
In Kidney International Reports September 2024
Autor:
Visser, Liesbeth, Westerveld, G. Henrike, Xie, Fang, van Daalen, Saskia K.M., van der Veen, Fulco, Lombardi, M. Paola, Repping, Sjoerd *
Publikováno v:
In Fertility and Sterility 1 March 2011 95(3):1020-1024
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report
Autor:
Finken, Martijn J. J., Hendriks, Yvonne M. C., van der Voorn, J. Patrick, Veening, Margreet A., Lombardi, M. Paola, Rotteveel, Joost
Publikováno v:
Hormone research in paediatrics, 83(3), 211-216. S. Karger AG
Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::158a765658bde94b4755f5c41f34df15
https://pure.amc.nl/en/publications/wt1-deletion-leading-to-severe-46xy-gonadal-dysgenesis-wilms-tumor-and-gonadoblastoma-case-report(e9996485-19ea-4758-9074-4e8126a405c2).html
https://pure.amc.nl/en/publications/wt1-deletion-leading-to-severe-46xy-gonadal-dysgenesis-wilms-tumor-and-gonadoblastoma-case-report(e9996485-19ea-4758-9074-4e8126a405c2).html
Autor:
Finken, Martijn J.J., Hendriks, Yvonne M.C., van der Voorn, J. Patrick, Veening, Margreet a., Lombardi, M. Paola, Rotteveel, Joost
Publikováno v:
Hormone Research in Paediatrics; Apr2015, Vol. 83 Issue 3, p211-216, 6p, 1 Color Photograph, 1 Graph
Akademický článek
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Autor:
Westerveld, G. Henrike *, Repping, Sjoerd, Leschot, Nico J., van der Veen, Fulco, Lombardi, M. Paola
Publikováno v:
In Fertility and Sterility 2005 83(2):513-515
Autor:
Gianotten, Judith, van der Veen, Fulco, Alders, Mariëlle, Leschot, Nico J., Tanck, Michael W.T., Land, Jolande A., Kremer, Jan A.M., Hoefsloot, Lies H., Mannens, Marcel M., Lombardi, M. Paola, Hoffer, Mariëtte J.V.
Publikováno v:
Molecular Human Reproduction; Oct2003, Vol. 9 Issue 10, p587-592, 6p
Autor:
Lombardi, M. Paola1, van den Hoff, Maurice J.B.1, Ruijter, Jan M.1, Luijerink, Marjanka1,2, Buffing, Anita A.1, Markman, Marry W.1, Moorman, Antoon F.M.1, Lekanne Deprez, Ronald H.1 r.h.lekanne@amc.uva.nl
Publikováno v:
Journal of Biochemical & Biophysical Methods. Jul2003, Vol. 57 Issue 1, p17. 17p.
Autor:
Lombardi, M Paola, Redeker, Egbert Jw, Defesche, Joep C, Kamerling, Sylvia Wa, Trip, Mieke D, Mannens, Marcel Mam, Havekes, Louis M, Kastelein, John Jp
Publikováno v:
Clinical Genetics; Feb2000, Vol. 57 Issue 2, p116-124, 9p, 3 Charts, 1 Map
Autor:
Peeters, A. V., Gaal, Luc F. Van, du Plessis, L., Lombardi, M. Paola R., Havekes, Louis M., Kotze, Maritha J.
Publikováno v:
Human Genetics; Jul1997, Vol. 100 Issue 2, p266-270, 5p