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  1. 2013

  2. De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome

    Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Oláh, É., Dallapiccola, B. & Borck, G., 2013, In: American journal of medical genetics. Part A. 161A, 4, p. 884-888

    Research output: Contribution to journal › Article › Academic › peer-review

  3. Genetic basis of hyperlysinemia

    Houten, S. M., te Brinke, H., Denis, S., Ruiter, J. P., Knegt, A. C., de Klerk, J. B., Augoustides-Savvopoulou, P., Häberle, J., Baumgartner, M. R., Coşkun, T., Zschocke, J., Sass, J. O., Poll-The, B. T., Wanders, R. J. & Duran, M., 2013, In: Orphanet journal of rare diseases. 8, 1, p. 57

    Research output: Contribution to journal › Article › Academic › peer-review

  4. Het Bloom-syndroom in Nederland: Klinisch overzicht van een nationaal cohort

    Hopman, S. M. J., Merks, J. H. M., Bijlsma, E. K., Boot, H., Knegt, A. C., Langenhorst, V., Schoenaker, M. H. D., Stuurman, K. E., Verheij, J. B. G. M., Wagner, A., Weemaes, C. M., Zwijnenburg, P. J. G., Michiels, E. & Kluijt, I., 2013, In: Tijdschrift voor kindergeneeskunde. 81, 6, p. 148-158

    Research output: Contribution to journal › Article › Professional

  5. Intellectual disability and hemizygous GPD2 mutation

    Barge-Schaapveld, D. Q. C. M., Ofman, R., Knegt, A. C., Alders, M., Höhne, W., Kemp, S. & Hennekam, R. C. M., 2013, In: American journal of medical genetics. Part A. 161A, 5, p. 1044-1050

    Research output: Contribution to journal › Article › Academic › peer-review

  6. 2012

  7. Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome

    Szakszon, K., Felszeghy, E., Csízy, I., Józsa, T., Káposzta, R., Balogh, E., Oláh, E., Balogh, I., Berényi, E., Knegt, A. C. & Ilyés, I., 2012, In: European journal of medical genetics. 55, 2, p. 109-111

    Research output: Contribution to journal › Article › Academic › peer-review

  8. Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism

    Huijsdens-van Amsterdam, K., Barge-Schaapveld, D. Q. C. M., Mathijssen, I. B., Alders, M., Pajkrt, E. & Knegt, A. C., 2012, In: Molecular cytogenetics. 5, 1, p. 8

    Research output: Contribution to journal › Article › Academic › peer-review

  9. Subtelomeric 6.7 Mb Trisomy 10p and 5.6 Mb Monosomy 21q Detected by FISH and Array-CGH in Three Related Patients

    Szabó, G. P., Knegt, A. C., Ujfalusi, A., Balogh, E., Szabó, T. & Oláh, É., 2012, In: American journal of medical genetics. Part A. 158A, 4, p. 869-876

    Research output: Contribution to journal › Article › Academic › peer-review

  10. 2011

  11. Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging

    Szakszon, K., Berényi, E., Jakab, A., Bessenyei, B., Balogh, E., Köbling, T., Szilvássy, J., Knegt, A. C. & Oláh, E., 2011, In: American journal of medical genetics. Part A. 155A, 3, p. 634-637

    Research output: Contribution to journal › Article › Academic › peer-review

  12. Selective karyotyping in recurrent miscarriage: are recommended guidelines adopted in daily clinical practice?

    van den Boogaard, E., Hermens, R. P. M. G., Verhoeve, H. R., Kremer, J. A. M., van der Veen, F., Knegt, A. C. & Goddijn, M., 2011, In: Human reproduction (Oxford, England). 26, 8, p. 1965-1970

    Research output: Contribution to journal › Article › Academic › peer-review

  13. The Atypical 16p11.2 Deletion: A Not So Atypical Microdeletion Syndrome?

    Barge-Schaapveld, D. Q. C. M., Maas, S. M., Polstra, A., Knegt, L. C. & Hennekam, R. C. M., 2011, In: American journal of medical genetics. Part A. 155A, 5, p. 1066-1072

    Research output: Contribution to journal › Article › Academic › peer-review

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