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

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

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Research Output (253)

Ernstige hypodontie:meer dan alleen ontbrekende gebitselementen?

Ross J N, Ruigrok L C, Fennis W M M, Cune M S, Rosenberg A J W P, van Nunen A B, Créton M A, Ploos van Amstel H K, van den Boogaard M J J H Jun 2023, In: Nederlands Tijdschrift voor Tandheelkunde. 130 , p. 277-286 10 p.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder:results of a prospective multicenter clinical utility study in the Netherlands

Olde Keizer Richelle A C M, Marouane Abderrahim, Kerstjens-Frederikse Wilhelmina S, Deden A Chantal, Lichtenbelt Klaske D, Jonckers Tinneke, Vervoorn Marieke, Vreeburg Maaike, Henneman Lidewij, de Vries Linda S, Sinke Richard J, Pfundt Rolph, Stevens Servi J C, Andriessen Peter, van Lingen Richard A, Nelen Marcel, Scheffer Hans, Stemkens Daphne, Oosterwijk Cor, van Amstel Hans Kristian Ploos, de Boode Willem P, van Zelst-Stams Wendy A G, Frederix Geert W J, Vissers Lisenka E L M, 31 Mar 2023, In: European Journal of Pediatrics. 182 , p. 2683-2692 10 p.

Medical costs of children admitted to the neonatal intensive care unit:The role and possible economic impact of WES in early diagnosis

Olde Keizer Richelle A.C.M., Marouane Abderrahim, Deden A. Chantal, van Zelst-Stams Wendy A.G., de Boode Willem P., Keusters Willem R., Henneman Lidewij, van Amstel Johannes Kristian Ploos, Frederix Gerardus W.J., Vissers Lisenka E.L.M. May 2022, In: European Journal of Medical Genetics. 65

Approach to Diagnosing a Pediatric Patient With Severe Insulin Resistance in Low- or Middle-income Countries

van Heerwaarde Alise A, Klomberg Renz C W, van Ravenswaaij-Arts Conny M A, Ploos van Amstel Hans Kristian, Toekoen Aartie, Jessurun Fariza, Garg Abhimanyu, van der Kaay Daniëlle C M Dec 2021, In: The Journal of clinical endocrinology and metabolism. 106 , p. 3621-3633 13 p.

Economic evaluations of exome and genome sequencing in pediatric genetics:considerations towards a consensus strategy

Olde Keizer Richelle A.C.M., Henneman Lidewij, Ploos van Amstel Johannes Kristian, Vissers Lisenka E.L.M., Frederix Gerardus W.J. 2021, In: Journal of Medical Economics. 24 , p. 60-70 11 p.

Gastrointestinal symptoms in patients with isolated oligodontia and a Wnt gene mutation

Ross Jamila N., Ruigrok Lisanne C., Fennis Willem M.M., Cune Marco S., Rosenberg Antoine J.W.P., van Nunen Annick B., Créton Marijn A., Ploos van Amstel Hans Kristian, van den Boogaard Marie José J.H. 2021, In: Oral Diseases. 29 , p. 300-307 8 p.

Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity

Cooiman M. I., Kleinendorst L., Aarts E. O., Janssen I. M.C., van Amstel H. K.Ploos, Blakemore A. I., Hazebroek E. J., Meijers-Heijboer H. J., van der Zwaag B., Berends F. J., van Haelst M. M. Feb 2020, In: Obesity Surgery. 30 , p. 470-477 8 p.

The limitation of genetic testing in diagnosing patients suspected for congenital platelet defects

Blaauwgeers Maaike W., van Asten Ivar, Kruip Marieke J.H.A., Beckers Erik A.M., Coppens Michiel, Eikenboom Jeroen, van Galen Karin P.M., Huisman Albert, Korporaal Suzanne J.A., Ploos van Amstel Hans Kristian, Tamminga Rienk Y.J., Urbanus Rolf T., Schutgens Roger E.G. 13 Nov 2019, In: American Journal of Hematology. 95 , p. E26-E28

Detection of disease causing repeats by multi-locus CRISPR-Cas enrichment and nanopore sequencing

Elferink M. G., Renkens I. J., Dooijes D., van Roosmalen M. J., Raimondeau E., Bowen R., Heron A. J., Graham J. E., van Amstel H. Ploos, Kloosterman W. P., van Gassen K. L. Oct 2019, In: European Journal of Human Genetics. 27 , p. 1658-1658

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases

Kant Benjamin, Carbo Ellen C., Kokmeijer Iris, Oosterman Jelske J.M., Frenkel Joost, Swertz Morris A., Ploos van Amstel Johannes K., Aróstegui Juan I., Koudijs Marco J., van Gijn Mariëlle E. 20 Aug 2019, In: Journal of Molecular Diagnostics. 21 , p. 943-950 8 p.

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