Clinical cardiogenetics

Por Baars, H. F., Doevendans, P. A. F. M., van der Smagt, J. J.
Publicado em c201

Large inv dup(15) chromosome in two generations.

Por Van Der Smagt, J J, Giltay, J C, De Ne, J J, Slabbers, G H
Publicado em 1996

Cardiovascular genetics: technological advancements and applicability for dilated cardiomyopathy

Por Kummeling, G.J.M., Baas, A.F., Harakalova, M., van der Smagt, J.J., Asselbergs, F.W.
Publicado no Neth Heart J (2015)

Gain of FAM123B and ARHGEF9 in an Obese Man with Intellectual Disability, Congenital Heart Defects and Multiple Supernumerary Ring Chromosomes

Por Hochstenbach, R., van Gijn, M.E., Krijtenburg, P.-J., Raemakers, R., van 't Slot, R., Renkens, I., Eleveld, M.J., van der Smagt, J.J., Poot, M.
Publicado em 2013

Molecular genetic analysis of six Dutch families with atrial fibrillation

Por Entius, M.M., Groenewegen, A., Pronk, A., van der Smagt, J.J, Loh, P., Hauer, R.N., Derksen, R., van Gelder, I.C., Lok, D.J.A., Doevendans, P.A.
Publicado em 2005

Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only

Por Hes, F, McKee, S, Taphoorn, M, Rehal, P, van der Luijt, R B, McMahon, R, van der Smagt, J J, Dow, D, Zewald, R, Whittaker, J, Lips, C, MacDonald, F, Pearson, P, Maher, E
Publicado em 2000

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

Por Petrij, F., Dauwerse, H., Blough, R., Giles, R., van der Smagt, J. J, Wallerstein, R., Maaswinkel-Mooy, P., van Karnebeek, C. D, van Ommen, G.-J. B, van Haeringen, A., Rubinstein, J., Saal, H., Hennekam, R., Peters, D., Breuning, M.
Publicado em 2000

Rationale and design of the CAREFUL study : The yield of CARdiogenetic scrEening in First degree relatives of sudden cardiac and UnexpLained death victims <45 years

Por Hendrix, A., van der Werf, C., Bots, M.L., Birnie, E., van der Smagt, J.J., Borleffs, C.J.W., Vink, A., van Weert, H.C., Doevendans, P.A.F.M., Wilde, A.A.M., Mosterd, A., van Langen, I.M.
Publicado em 2010

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

Por Otten, E., Lekanne dit Deprez, R.H., Weiss, M.M., van Slegtenhorst, M., Joosten, M., van der Smagt, J.J., de Jonge, N., Kerstjens-Frederikse, W.S., Roofthooft, M.T.R., Balk, A.H.M.M., van den Berg, M.P., Ruiter, J.S., van Tintelen, J.P.
Publicado em 2010