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prof. dr. J.J.K. (Hans Kristian) Ploos van Amstel

prof. dr. J.J.K. (Hans Kristian) Ploos van Amstel

Full Professor

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Research Output (249)

Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development

Mitter Diana, Lemke Johannes R., Platzer Konrad, Jamra Rami, Ploos van Amstel Hans K., van der Smagt Jasper J., Stegmann Alexander P.A., Stumpel Constance T.R.M., Stevens Servi J.C., Oberndorff Katrin, Marcelis Carlo L., Cogné Benjamin, Vincent Marie, Simonic Ingrid, Hague Jennifer, Park Soo Mi 1 Aug 2018, In: Annals of Neurology. 84 , p. 200-207 8 p.

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis

Vrijenhoek Terry, Middelburg Eline M, Monroe Glen R, van Gassen Koen L I, Geenen Joost W, Hövels Anke M, Knoers Nine V, van Amstel Hans Kristian Ploos, Frederix Gerardus W J 29 Jun 2018, In: European Journal of Human Genetics. 26 , p. 1566-1571

Bovenop de toekomst

Ploos van Amstel JK Mar 2018, In: Laboratoriumgeneeskunde. 1 , p. 27-28 2 p.

A survey of undetected, clinically relevant chromosome abnormalities when replacing postnatal karyotyping by Whole Genome Sequencing

Hochstenbach Ron, van Binsbergen Ellen, Schuring-Blom Heleen, Buijs Arjan, Ploos van Amstel Hans Kristian 1 Jan 2018, In: European Journal of Medical Genetics. 62

Familial macrothrombocytopenia due to a double mutation in cis in the alpha-actinin 1 gene (ACTN1), previously considered to be chronic immune thrombocytopenic purpura

Kanhai Danny, Mulder René, Ploos van Amstel Hans Kristian, Schutgens Roger, Lukens Michael, Tamminga Rienk Y.J. 1 Jan 2018, In: Pediatric Blood and Cancer. 65

Nieuwe bloedtest van ernstige erfelijke ziekten:Prenatale diagnostiek

Ploos van Amstel JK, Otten Arnold Dec 2017, 2 p.

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia

Vorselaars V.M., Diederik A., Prabhudesai V., Velthuis S., Vos J. A., Snijder R. J., Westermann C.J.J., Mulder B.J., Ploos van Amstel J. K., Mager Johannes J., Faughnan M. E., Post M. C. 15 Oct 2017, In: International Journal of Cardiology. 245 , p. 114-118 5 p.

The association between WNT10A variants and dental development in patients with isolated oligodontia

Dhamo Brunilda, Fennis Willem, Creton MA, Vucic Strahinja, Cune Marco, Ploos van Amstel Hans Kristian, Wolvius Eppo B, van den Boogaard MJH, Ongkosuwito Edwin M Jan 2017, In: European Journal of Human Genetics. 25 , p. 59–65

Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping

Vermeulen Carlo, Geeven Geert, de Wit Elzo, Verstegen Marjon J A M, Jansen Rumo P.M., van Kranenburg Melissa, de Bruijn Ewart, Pulit Sara L., Kruisselbrink Evelien, Shahsavari Zahra, Omrani Davood, Zeinali Fatemeh, Najmabadi Hossein, Katsila Theodora, Vrettou Christina, Patrinos George P., Traeger-Synodinos Joanne, Splinter Erik, Beekman Jeffrey M., Kheradmand Kia Sima, Te Meerman Gerard J, Ploos van Amstel Hans Kristian, de Laat Wouter 2017, In: American Journal of Human Genetics. 101 , p. 326-339

Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion

de Lange Iris M, Verrijn Stuart Annemarie A, van der Luijt Rob B, Ploos van Amstel Hans Kristian, van Haelst Mieke M Sep 2016, In: American Journal of Medical Genetics. Part A. 170 , p. 2431–2435

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