Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A
Published in Journal of medical genetics (01.11.2008)
Published in Journal of medical genetics (01.11.2008)
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Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
Halgren, C, Kjaergaard, S, Bak, M, Hansen, C, El-Schich, Z, Anderson, CM, Henriksen, KF, Hjalgrim, H, Kirchhoff, M, Bijlsma, EK, Nielsen, M, den Hollander, NS, Ruivenkamp, CAL, Isidor, B, Le Caignec, C, Zannolli, R, Mucciolo, M, Renieri, A, Mari, F, Anderlid, B-M, Andrieux, J, Dieux, A, Tommerup, N, Bache, I
Published in Clinical genetics (01.09.2012)
Published in Clinical genetics (01.09.2012)
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X-chromosome duplications in males with mental retardation: pathogenic or benign variants?
Gijsbers, ACJ, Den Hollander, NS, Helderman-van de Enden, ATJM, Schuurs-Hoeijmakers, JHM, Vijfhuizen, L, Bijlsma, EK, Van Haeringen, A, Hansson, KBM, Bakker, E, Breuning, MH, Ruivenkamp, CAL
Published in Clinical genetics (01.01.2011)
Published in Clinical genetics (01.01.2011)
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Early prenatal sonographic diagnosis and follow‐up of Jeune syndrome
Den Hollander, N. S., Robben, S. G. F., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.
Published in Ultrasound in obstetrics & gynecology (01.10.2001)
Published in Ultrasound in obstetrics & gynecology (01.10.2001)
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Early fetal anomaly scanning in a population at increased risk of abnormalities
Den Hollander, N. S., Wessels, M. W., Niermeijer, M. F., Los, F. J., Wladimiroff, J. W.
Published in Ultrasound in obstetrics & gynecology (01.06.2002)
Published in Ultrasound in obstetrics & gynecology (01.06.2002)
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In‐utero diagnosis of mucopolysaccharidosis type VII in a fetus with an enlarged nuchal translucency
Den Hollander, N. S., Kleijer, W. J., Schoonderwaldt, E. M., Los, F. J., Wladimiroff, J. W., Niermeijer, M. F.
Published in Ultrasound in obstetrics & gynecology (01.07.2000)
Published in Ultrasound in obstetrics & gynecology (01.07.2000)
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Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting
Goobie, S., Knijnenburg, J., FitzPatrick, D., Sharkey, F.H., Lionel, A.C., Marshall, C.R., Azam, T., Shago, M., Chong, K., Mendoza-Londono, R., den Hollander, N.S., Ruivenkamp, C., Maher, E., Tanke, H.J., Szuhai, K., Wintle, R.F., Scherer, S.W.
Published in Cytogenetic and genome research (01.01.2008)
Published in Cytogenetic and genome research (01.01.2008)
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Prenatal diagnosis of type A1 brachydactyly
Den Hollander, N. S., Hoogeboom, A. J. M., Niermeijer, M. F., Wladimiroff, J. W.
Published in Ultrasound in obstetrics & gynecology (01.06.2001)
Published in Ultrasound in obstetrics & gynecology (01.06.2001)
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Prenatal diagnosis of congenital diaphragmatic hernia: a retrospective analysis of 28 cases
Manni, M, Heydanus, R, Den Hollander, N S, Stewart, P A, De Vogelaere, C, Wladimiroff, J W
Published in Prenatal diagnosis (01.03.1994)
Published in Prenatal diagnosis (01.03.1994)
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Congenital Disorder of Glycosylation type Ia presenting with hydrops fetalis
van de Kamp, Jiddeke Matuja, Lefeber, Dirk J, Ruijter, George JG, Steggerda, Sylke J, den Hollander, Nicolette S, Willems, Stefan M, Matthijs, Gert, Poorthuis, Ben JHM, Wevers, Ron A
Published in Journal of medical genetics (01.04.2007)
Published in Journal of medical genetics (01.04.2007)
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Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez
Wessels, M W, Den Hollander, N S, Cohen-Overbeek, T E, Lesnik Oberstein, M S, Nash, R M, Wladimiroff, J W, Niermeijer, M F, Willems, P J
Published in American journal of medical genetics (15.11.2002)
Published in American journal of medical genetics (15.11.2002)
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Cordocentesis for rapid karyotyping in fetuses with congenital anomalies or severe IUGR
den Hollander, N.S., Cohen-Overbeek, T.E., Heydanus, R., Stewart, P.A., Brandenburg, H., Los, F.L., Jahoda, M.G.J., Wladimiroff, J.W.
Published in European journal of obstetrics & gynecology and reproductive biology (15.03.1994)
Published in European journal of obstetrics & gynecology and reproductive biology (15.03.1994)
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Sonographically determined anomalies and outcome in 170 chromosomally abnormal fetuses
Wladimiroff, J W, Bhaggoe, W R, Kristelijn, M, Cohen-Overbeek, T E, Den Hollander, N S, Brandenburg, H, Los, F J
Published in Prenatal diagnosis (01.05.1995)
Published in Prenatal diagnosis (01.05.1995)
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A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing blomstrand lethal osteochondrodysplasia
KARPERIEN, M, VAN DER HARTEN, H. J, VAN SCHOOTEN, R, FARIH-SIPS, H, HOLLANDER, N. S. D, KNEPPERS, S. L. J, NIJWEIDE, P, PAPAPOULOS, S. E, LOWIK, C. W. G. M
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
Published in The journal of clinical endocrinology and metabolism (01.10.1999)
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