Update on Kleefstra Syndrome
Willemsen, M.H., Vulto-van Silfhout, A.T., Nillesen, W.M., Wissink-Lindhout, W.M., van Bokhoven, H., Philip, N., Berry-Kravis, E.M., Kini, U., van Ravenswaaij-Arts, C.M.A., Delle Chiaie, B., Innes, A.M.M., Houge, G., Kosonen, T., Cremer, K., Fannemel, M., Stray-Pedersen, A., Reardon, W., Ignatius, J., Lachlan, K., Mircher, C., Helderman van den Enden, P.T.J.M., Mastebroek, M., Cohn-Hokke, P.E., Yntema, H.G., Drunat, S., Kleefstra, T.
Published in Molecular syndromology (01.04.2012)
Published in Molecular syndromology (01.04.2012)
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Journal Article
Phelan-mcdermid Syndrome in an Adult Female with Mild Intellectual Disability
Verhoeven, W.M.A, Egger, J.I.M, Van Ravenswaaij-Arts, C.M.A, De Leeuw, N
Published in European psychiatry (28.03.2015)
Published in European psychiatry (28.03.2015)
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Journal Article
The neuromuscular phenotype of shoulder deformities in CHARGE-syndrome
Verbeek, R.J, de Geus, C.M, van der Hoeven, J.H, van Ravenswaaij-Arts, C.M.A, Sival, D.A
Published in European journal of paediatric neurology (01.06.2017)
Published in European journal of paediatric neurology (01.06.2017)
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Journal Article
More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often Anticipated
Corsten-Janssen, N., Saitta, S.C., Hoefsloot, L.H., McDonald-McGinn, D.M., Driscoll, D.A., Derks, R., Dickinson, K.A., Kerstjens-Frederikse, W.S., Emanuel, B.S., Zackai, E.H., van Ravenswaaij-Arts, C.M.A.
Published in Molecular syndromology (01.06.2013)
Published in Molecular syndromology (01.06.2013)
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Journal Article
Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2
Patat, O., van Ravenswaaij-Arts, C.M.A., Tantau, J., Corsten-Janssen, N., van Tintelen, J.P., Dijkhuizen, T., Kaplan, J., Chassaing, N.
Published in Molecular syndromology (01.09.2013)
Published in Molecular syndromology (01.09.2013)
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Journal Article
An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions
Verheij, J.B.G.M, de Munnik, S.A, Dijkhuizen, T, de Leeuw, N, Olde Weghuis, D, van den Hoek, G.J, Rijlaarsdam, R.S, Thomasse, Y.E.M, Dikkers, F.G, Marcelis, C.L.M, van Ravenswaaij-Arts, C.M.A
Published in European journal of medical genetics (01.09.2009)
Published in European journal of medical genetics (01.09.2009)
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Journal Article
Molecular and clinical studies in 8 patients with Temple syndrome
Gillessen‐Kaesbach, G., Albrecht, B., Eggermann, T., Elbracht, M., Mitter, D., Morlot, S., van Ravenswaaij‐Arts, C.M.A., Schulz, S., Strobl‐Wildemann, G., Buiting, K., Beygo, J.
Published in Clinical genetics (01.06.2018)
Published in Clinical genetics (01.06.2018)
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Journal Article
Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD
De Krom, G., Arens, Y.H.J.M., Coonen, E., Van Ravenswaaij-Arts, C.M.A., Meijer-Hoogeveen, M., Evers, J.L.H., Van Golde, R.J.T., De Die-Smulders, C.E.M.
Published in Human reproduction (Oxford) (01.02.2015)
Published in Human reproduction (Oxford) (01.02.2015)
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Journal Article
De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms
Powis, Z., Petrik, I., Cohen, J.S., Escolar, D., Burton, J., van Ravenswaaij‐Arts, C.M.A., Sival, D.A., Stegmann, A.P.A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S., Shinde, D.N.
Published in Clinical genetics (01.05.2018)
Published in Clinical genetics (01.05.2018)
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Journal Article
Chromosomal abnormalities in azoospermic and non-azoospermic infertile men: numbers needed to be screened to prevent adverse pregnancy outcomes
Dul, E.C., van Echten-Arends, J., Groen, H., Dijkhuizen, T., Land, J.A., van Ravenswaaij-Arts, C.M.A.
Published in Human reproduction (Oxford) (01.09.2012)
Published in Human reproduction (Oxford) (01.09.2012)
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Journal Article
Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces
Sinnige, P.F., van Ravenswaaij-Arts, C.M.A., Caruso, P., Lin, A.E., Boon, M., Rahikkala, E., Callewaert, B., Meiners, L.C.
Published in European journal of paediatric neurology (01.11.2017)
Published in European journal of paediatric neurology (01.11.2017)
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Journal Article
The prevalence of chromosomal abnormalities in subgroups of infertile men
Dul, E.C., Groen, H., van Ravenswaaij-Arts, C.M.A., Dijkhuizen, T., van Echten-Arends, J., Land, J.A.
Published in Human reproduction (Oxford) (01.01.2012)
Published in Human reproduction (Oxford) (01.01.2012)
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Journal Article
Preimplantation genetic diagnosis for X;autosome translocations: lessons from a case of misdiagnosis
Van Echten-Arends, J., Coonen, E., Reuters, B., Suijkerbuijk, R.F., Dul, E.C., Land, J.A., van Ravenswaaij-Arts, C.M.A.
Published in Human reproduction (Oxford) (01.11.2013)
Published in Human reproduction (Oxford) (01.11.2013)
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Journal Article
Who should be screened for chromosomal abnormalities before ICSI treatment?
Dul, E.C., van Ravenswaaij-Arts, C.M.A., Groen, H., van Echten-Arends, J., Land, J.A.
Published in Human reproduction (Oxford) (01.11.2010)
Published in Human reproduction (Oxford) (01.11.2010)
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Journal Article