Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management... von Hitzert, M M, van der Crabben, S N, Baldewsingh, G, van Amstel, H K Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C M A, Zijlmans, C W R

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

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The association of CGG repeats in the FMR1 gene and timing of natural menopause von Voorhuis, M., Onland-Moret, N.C., Fauser, B.C.J.M., Ploos van Amstel, H.K., van der Schouw, Y.T., Broekmans, F.J.

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The significance of fragile X mental retardation gene 1 CGG repeat sizes in the normal and intermediate range in women with primary ovarian insufficiency von Voorhuis, M., Onland-Moret, N.C., Janse, F., Ploos van Amstel, H.K., Goverde, A.J., Lambalk, C.B., Laven, J.S.E., van der Schouw, Y.T., Broekmans, F.J.M., Fauser, B.C.J.M.

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Response to desmopressin in patients with mild hemophilia A caused by the F8 c.1910A>G, p.Asn637Ser mutation von Mauser‐Bunschoten, E. P., Fransen van de Putte, D. E., Ploos van Amstel, H. K., Spoor, M., Schutgens, R. E. G.

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A diagnostic protocol for adult-onset glycogen storage disease type II von AUSEMS, M. G. E. M, LOCHMAN, P, VAN DIGGELEN, O. P, PLOOS VAN AMSTEL, H. K, REUSER, A. J. J, WOKKE, J. H. J

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Heerlen Polymorphism of Protein S, an Immunologic Polymorphism Due to Dimorphism of Residue 460 von Bertina, R.M., van Amstel, H.K. Ploos, van Wijngaarden, A., Coenen, J., Leemhuis, M.P., Deutz-Terlouw, P.P., van der Linden, I.K., Reitsma, P.H.

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Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands von Elferink, MG, van Zon, P, Frenkel, J, Harts, W, Simon, A, van Royen-Kerkhof, A, Swart, J, van Amstel, H-K Ploos, van Gijn, M

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The Significance of Fragile X Mental Retardation Gene 1 CGG Repeat Sizes in the Normal and Intermediate Range in Women With Primary Ovarian Insufficiency von Voorhuis, M, Onland-Moret, N C, Janse, F, Ploos van Amstel, H K, Goverde, A J, Lambalk, C B, Laven, J. S E, van der Schouw, Y T, Broekmans, F. J M, Fauser, B. C. J M

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a mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma von HOFSTRA, R. M. W, LANDSVATER, R. M, LIPS, C. J. M, BUYS, C. H. C. M, CECCHERINI, I, STULP, R. P, STELWAGEN, T, YIN LUO, PASINI, B, HÖPPENER, J. W. M, PLOOS VAN AMSTEL, H. K, ROMEO, G

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Three novel mutations in five unrelated subjects with hereditary protein S deficiency type I von REITSMA, P. H, VAN AMSTEL, H. K. P, BERTINA, R. M

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Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers von LANDSVATER, R. M, DE WIT, M. J, ZEWALD, R. A, HOFSTRA, R. M. W, BUYS, C. H. C. M, PLOOS VAN AMSTEL, H.-K, HÖPPENER, J. W. M, LIPS, C. J. M

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Mandibuloacral dysplasia type B , clinical diagnostic criteria and management guidelines von Hitzert, M. M, van der Crabben, S. N, Baldewsingh, G, van Amstel, H. K. Ploos, van den Wijngaard, A, van Ravenswaaij-Arts, C. M. A, Zijlmans, C. W. R

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Criteria for mutation analysis in MEN 1-suspected patients: MEN 1 case-finding von Roijers, De Wit, Van Der Luijt, Ploos van Amstel, Höppener, Lips

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Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates von Spaapen, L. J. M., Bakker, J. A., Velter, C., Loots, W., Rubio‐Gonzalbo, M. E., Forget, P. P., Dorland, L., De Koning, T. J., Poll‐The, B. T., Ploos Van Amstel, H. K., Bekhof, J., Blau, N., Duran, M.

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Partial Protein S Gene Deletion in a Family With Hereditary Thrombophilia von Ploos van Amstel, Hans K., Huisman, Menno V., Reitsma, Pieter H., ten Cate, Jan Wouter, Bertina, Rogier M.

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Very high frequency of the His1069Gln mutation in Polish Wilson disease patients von Czlonkowska, A, Rodo, M, Gajda, J, Ploos van Amstel, H K, Juyn, J, Houwen, R H

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Genotype-phenotype correlation in adult-onset acid maltase deficiency von Wokke, John H. J., Ausems, Margreet G. E. M., van den Boogaard, Marie-José H., Ippel, Elly F., van Diggelen, Otto, Kroos, Marian A., Boer, Marijke, Jennekens, Frans G. I., Reuser, Arnold J. J., van Amstel, Hans Kristian Ploos

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Intron-exon organization of the active human protein S gene PSα and its pseudogene PSβ : duplication and silencing during primate evolution von PLOOS VAN AMSTEL, H. K, REITSMA, P. H, VAN DER LOGT, C. P. E, BERTINA, R. M

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Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC : two novel mutations and one de novo mutation for MEN 2A von LANDSVATER, R. M, JANSEN, R. P. M, HOFSTRA, R. M. W, BUYS, C. H. C. M, LIPS, C. J. M, PLOOS VAN AMSTEL, H. C

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