Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome
Gallione, Carol, Aylsworth, Arthur S., Beis, Jill, Berk, Terri, Bernhardt, Barbara, Clark, Robin D., Clericuzio, Carol, Danesino, Cesare, Drautz, Joanne, Fahl, Jeffrey, Fan, Zheng, Faughnan, Marie E., Ganguly, Arupa, Garvie, John, Henderson, Katharine, Kini, Usha, Leedom, Tracey, Ludman, Mark, Lux, Andreas, Maisenbacher, Melissa, Mazzucco, Sara, Olivieri, Carla, Ploos van Amstel, Johannes K., Prigoda-Lee, Nadia, Pyeritz, Reed E., Reardon, Willie, Vandezande, Kirk, Waldman, J. Deane, White Jr, Robert I., Williams, Charles A., Marchuk, Douglas A.
Published in American journal of medical genetics. Part A (01.02.2010)
Published in American journal of medical genetics. Part A (01.02.2010)
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The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa—three novel pathogenic variants
Mutize, Tendaishe T., Seedat, Riaz Y., Ploos van Amstel, Johannes K., Mager, Johannes J., Brown, Stephen C., Gebremariam, Fekade, Coetzee, Marius J.
Published in Molecular biology reports (01.12.2020)
Published in Molecular biology reports (01.12.2020)
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Targeted next-generation sequencing: A novel diagnostic tool for primary immunodeficiencies
Nijman, Isaac J., PhD, van Montfrans, Joris M., MD, PhD, Hoogstraat, Marlous, BAS, Boes, Marianne L., PhD, van de Corput, Lisette, PhD, Renner, Ellen D., MD, PhD, van Zon, Patrick, BSc, van Lieshout, Stef, BSc, Elferink, Martin G., PhD, van der Burg, Mirjam, PhD, Vermont, Clementien L., MD, PhD, van der Zwaag, Bert, PhD, Janson, Esther, BSc, Cuppen, Edwin, PhD, Ploos van Amstel, Johannes K., PhD, van Gijn, Marielle E., PhD
Published in Journal of allergy and clinical immunology (01.02.2014)
Published in Journal of allergy and clinical immunology (01.02.2014)
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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.
Published in The Journal of molecular diagnostics : JMD (01.11.2019)
Published in The Journal of molecular diagnostics : JMD (01.11.2019)
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Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres
VAN GIJN, Marielle E, SOLER, Stéphan, BAKKER, Egbert, PLOOS VAN AMSTEL, Johannes K, TOUITOU, Isabelle, DE LA CHAPELLE, Claire, MULDER, Marcel, RITORRE, Cécile, KRIEK, Marjolein, PHILIBERT, Laurent, VAN DER WIELEN, Michiel, FRENKEL, Joost, GRANDEMANGE, Sylvie
Published in European journal of human genetics : EJHG (01.11.2008)
Published in European journal of human genetics : EJHG (01.11.2008)
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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis
Stapelbroek, Janneke M., Bollen, Casper W., Ploos van Amstel, Johannes K., van Erpecum, Karel J., van Hattum, Jan, van den Berg, Leonard H., Klomp, Leo W.J., Houwen, Roderick H.J.
Published in Journal of hepatology (01.11.2004)
Published in Journal of hepatology (01.11.2004)
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Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
SJARIF, Damayanti R, HELLERUD, Christina, VAN AMSTEL, Johannes K, KLEIJER, Willem J, SPERL, Wolfgang, LACOMBE, Didier, SASS, Jorn Oliver, BEEMER, Frits A, DURAN, Marinus, POLL-THE, Bwee Tien
Published in European journal of human genetics : EJHG (01.06.2004)
Published in European journal of human genetics : EJHG (01.06.2004)
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Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia
Brooimans, R A, van den Berg, A J, Rijkers, G T, Sanders, L A, van Amstel, J K, Tilanus, M G, Grubben, M J, Zegers, B J
Published in Journal of medical genetics (01.06.1997)
Published in Journal of medical genetics (01.06.1997)
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