Down syndrome: a cardiovascular perspective
Vis, J. C., Duffels, M. G. J., Winter, M. M., Weijerman, M. E., Cobben, J. M., Huisman, S. A., Mulder, B. J. M.
Published in Journal of intellectual disability research (01.05.2009)
Published in Journal of intellectual disability research (01.05.2009)
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Journal Article
Array CGH on unstimulated blood does not detect all cases of Pallister-Killian syndrome: Buccal smear analysis should remain the diagnostic procedure of first choice
Cobben, J.M., Engelen, M., Polstra, A.
Published in American journal of medical genetics. Part A (01.06.2013)
Published in American journal of medical genetics. Part A (01.06.2013)
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Journal Article
Epigenotype–phenotype correlations in Silver–Russell syndrome
Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M
Published in Journal of medical genetics (01.11.2010)
Published in Journal of medical genetics (01.11.2010)
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Journal Article
Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta‐analysis
Jansen, F. A. R., Blumenfeld, Y. J., Fisher, A., Cobben, J. M., Odibo, A. O., Borrell, A., Haak, M. C.
Published in Ultrasound in obstetrics & gynecology (01.01.2015)
Published in Ultrasound in obstetrics & gynecology (01.01.2015)
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Journal Article
Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS
Veldink, J H, van den Berg, L H, Cobben, J M, Stulp, R P, De Jong, J M, Vogels, O J, Baas, F, Wokke, J H, Scheffer, H
Published in Neurology (27.03.2001)
Published in Neurology (27.03.2001)
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Journal Article
Compound-heterozygous Marfan syndrome
Van Dijk, F.S, Hamel, B.C, Hilhorst-Hofstee, Y, Mulder, B.J.M, Timmermans, J, Pals, G, Cobben, J.M
Published in European journal of medical genetics (01.01.2009)
Published in European journal of medical genetics (01.01.2009)
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Journal Article
Osteogenesis Imperfecta: A Review with Clinical Examples
van Dijk, F.S., Cobben, J.M., Kariminejad, A., Maugeri, A., Nikkels, P.G.J., van Rijn, R.R., Pals, G.
Published in Molecular syndromology (01.12.2011)
Published in Molecular syndromology (01.12.2011)
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Journal Article
Classification of Osteogenesis Imperfecta revisited
Van Dijk, F.S, Pals, G, Van Rijn, R.R, Nikkels, P.G.J, Cobben, J.M
Published in European journal of medical genetics (01.01.2010)
Published in European journal of medical genetics (01.01.2010)
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Journal Article
Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
VAN DER STEEGE, G, GROOTSCHOLTEN, P. M, COBBEN, J. M, ZAPPATA, S, SCHEFFER, H, DEN DUNNEN, J. T, VAN OMMEN, G.-J. B, BRAHE, C, BUYS, C. H. C. M
Published in American journal of human genetics (01.10.1996)
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Published in American journal of human genetics (01.10.1996)
Journal Article
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development
Crackower, Michael A., Scherer, Stephen W., Rommens, Johanna M., Hui, Chi-Chung, Poorkaj, Parvoneh, Soder, Sylvia, Cobben, Jan Maarten, Hudgins, Louanne, Evans, James P., Tsui, Lap-Chee
Published in Human molecular genetics (01.05.1996)
Published in Human molecular genetics (01.05.1996)
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Journal Article
Low levels of prenatal alcohol exposure can cause fetal damage
Black, D, Cobben, JM, Didden, R, Lindhout, D, Pereira, RR, Van Wieringen, H
Published in BJOG : an international journal of obstetrics and gynaecology (01.06.2007)
Published in BJOG : an international journal of obstetrics and gynaecology (01.06.2007)
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Journal Article
Preimplantation genetic diagnosis of spinal muscular atrophy
DREESEN, J. C. F. M, BRAS, M, DE DIE-SMULDERS, C, DUMOULIN, J. C. M, COBBEN, J. M, EVERS, J. L. H, SMEETS, H. J. M, GERAEDTS, J. P. M
Published in Molecular human reproduction (01.09.1998)
Published in Molecular human reproduction (01.09.1998)
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Journal Article
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield
Overwater, E, Floor, K, van Beek, D, de Boer, K, van Dijk, T, Hilhorst-Hofstee, Y, Hoogeboom, A.J.M, van Kaam, K.J, van de Kamp, J.M, Kempers, M, Krapels, I.P.C, Kroes, H.Y, Loeys, B, Salemink, S, Stumpel, C.T.R.M, Verhoeven, V.J.M, Wijnands-van den Berg, E, Cobben, J.M, van Tintelen, J.P, Weiss, M.M, Houweling, A.C, Maugeri, A
Published in European journal of medical genetics (01.09.2017)
Published in European journal of medical genetics (01.09.2017)
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Journal Article
A de novo mutation in ZMYND11 , a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability
Cobben, J.M, Weiss, M.M, van Dijk, F.S, De Reuver, R, de Kruiff, C, Pondaag, W, Hennekam, R.C, Yntema, H.G
Published in European journal of medical genetics (01.11.2014)
Published in European journal of medical genetics (01.11.2014)
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Journal Article
Oculocerebrocutaneous syndrome: report of three additional cases and aetiological considerations
Moog, U., de Die-Smulders, C., Systermans, J. M. J., Cobben, J. M.
Published in Clinical genetics (01.10.1997)
Published in Clinical genetics (01.10.1997)
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Journal Article
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease
Cobben, Jan M., Breuning, Martijn H., Schoots, Coen, ten Kate, Leo P., Zerres, Klaus
Published in Kidney international (01.11.1990)
Published in Kidney international (01.11.1990)
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Journal Article
Survival in SMA type I: A prospective analysis of 34 consecutive cases
Cobben, J.M, Lemmink, H.H, Snoeck, I, Barth, P.A, van der Lee, J.H, de Visser, M
Published in Neuromuscular disorders : NMD (01.07.2008)
Published in Neuromuscular disorders : NMD (01.07.2008)
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