A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
van Minkelen, R., van Bever, Y., Kromosoeto, J.N.R., Withagen-Hermans, C.J., Nieuwlaat, A., Halley, D.J.J., van den Ouweland, A.M.W.
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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A clinical and genetic overview of 18years neurofibromatosis type 1 molecular diagnostics in the Netherlands
van Minkelen, R, van Bever, Y, Kromosoeto, JNR, Withagen-Hermans, CJ, Nieuwlaat, A, Halley, DJJ, van den Ouweland, AMW
Published in Clinical genetics (01.04.2014)
Published in Clinical genetics (01.04.2014)
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Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations
Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S.A., Jagadeesh, S., Kayserili, H., Keng, W.T., Lev, D., Prada, C.E., Sampson, J.R., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J.M., Verheij, J.B., Vikkula, M., Hennekam, R.C.
Published in Molecular syndromology (01.03.2013)
Published in Molecular syndromology (01.03.2013)
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VACTERL Association Etiology: The Impact of de novo and Rare Copy Number Variations
Brosens, E., Eussen, H., van Bever, Y., van der Helm, R.M., Ijsselstijn, H., Zaveri, H.P., Wijnen, R., Scott, D.A., Tibboel, D., de Klein, A.
Published in Molecular syndromology (01.02.2013)
Published in Molecular syndromology (01.02.2013)
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DOZ047.32: Infantile hypertrophic pyloric stenosis in patients with esophageal atresia: proposal for a causative seesaw model
Ten Kate, C A, Brouwer, R W W, van Bever, Y, Martens, V K, Brands, T, van Beelen, N W G, Brooks, A S, Huigh, D, Eussen, H, van IJcken, W F J, IJsselstijn, H, Tibboel, D, Wijnen, R M H, de Klein, A, Hofstra, R M W, Brosens, E
Published in Diseases of the esophagus (01.06.2019)
Published in Diseases of the esophagus (01.06.2019)
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Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA)
Rooms, Liesbeth, Reyniers, Edwin, Luijk, Rob van, Scheers, Stefaan, Wauters, Jan, Ceulemans, Berten, Van Den Ende, Jenneke, Van Bever, Yolande, Kooy, R. Frank
Published in Human mutation (01.01.2004)
Published in Human mutation (01.01.2004)
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Clinical report of a pure subtelomeric 1qter deletion in a boy with mental retardation and multiple anomalies adds further evidence for a specific phenotype
van Bever, Yolande, Rooms, Liesbeth, Laridon, Annick, Reyniers, Edwin, van Luijk, Rob, Scheers, Stefaan, Wauters, Jan, Kooy, R. Frank
Published in American journal of medical genetics. Part A (15.05.2005)
Published in American journal of medical genetics. Part A (15.05.2005)
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Waardenburg syndrome: Clinical differentiation between types I and II
Pardono, Eliete, van Bever, Yolande, van den Ende, Jenneke, Havrenne, Poti C., Iughetti, Paula, Maestrelli, Sylvia R.P., Costa F, Orozimbo, Richieri-Costa, Antonio, Frota-Pessoa, Oswaldo, Otto, Paulo A.
Published in American journal of medical genetics. Part A (15.03.2003)
Published in American journal of medical genetics. Part A (15.03.2003)
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Acromicric dysplasia and geleophysic dysplasia : similarities and differences
HENNEKAM, R. C. M, VAN BEVER, Y, OORTHUYS, J. W. E
Published in European journal of pediatrics (01.04.1996)
Published in European journal of pediatrics (01.04.1996)
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