Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Autor: van Lint, F. H. M., Mook, O. R. F., Alders, M., Bikker, H., Lekanne dit Deprez, R. H., Christiaans, I.

Publikováno v: Netherlands Heart Journal; Jun2019, Vol. 27 Issue 6, p304-309, 6p

CDNA arrays: the ups and downs

Autor: Remme, C. A., Lombardi, M. P., van den Hoff, M. J., Lekanne dit Deprez, R. H.

Publikováno v: Cardiovascular drugs and therapy / sponsored by the International Society of Cardiovascular Pharmacotherapy, 15(2), 99-101. Kluwer Academic Publishers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::e076b0fce03cf925a18fa09170dfbf00
https://pure.amc.nl/en/publications/cdna-arrays-the-ups-and-downs(955f7ef8-0334-472b-b6ac-7eaeab5beabd).html

M.P.4.11 Extension of the clinical spectrum of Danon’s disease. A novel missense mutation in the splice variant B of the LAMP2 gene leads to myopathy, with mild cardiac abnormalities, retinopathy and no evident mental retardation

Autor: van der Kooi, A., Aronica, E., van Doorn, P., Wokke, J., van Langen, I., Langerhorst, C., Lekanne dit Deprez, R., Dekker, L., de Visser, M.

Publikováno v: In Neuromuscular Disorders 2007 17(9):862-862

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NF2 status of meningiomas is associated with tumour localization and histology.

Autor: Kros J; Department of Pathology of the Erasmus University and Academic Hospital Rotterdam, Rotterdam, The Netherlands. kros@path.fgg.eur.nl, de Greve K, van Tilborg A, Hop W, Pieterman H, Avezaat C, Lekanne Dit Deprez R, Zwarthoff E

Publikováno v: The Journal of pathology [J Pathol] 2001 Jul; Vol. 194 (3), pp. 367-72.