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Browsing by Author Burgt, C.J.A. van der

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Showing results 1 to 24 of 24
Full TextIssue DateTitleAuthor(s)
2008Noonan syndrome : psychological and psychiatric aspectsVerhoeven, W.M.A.; Wingbermühle, P.A.M.; Egger, J.I.M.; Burgt, C.J.A. van der; Tuinier, S.
2007Psychopathology and social cognition in 10 patients with Noonan syndromeWingbermühle, P.A.M.; Egger, J.I.M.; Verhoeven, W.M.A.; Burgt, C.J.A. van der
2005Identification of mutations in CUL7 in 3-M syndrome.Huber, C.; Dias-Santagata, D.; Glaser, A.; O'Sullivan, J.; Brauner, R., et al
2005A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma.Steensel, M.A.M. van; Spruijt, L.; Burgt, C.J.A. van der; Bladergroen, R.; Vermeer, M., et al
2005Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.M.M.; Moser, B., et al
2005Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.Jongmans, M.; Sistermans, E.A.; Rikken, A.; Nillesen, W.M.; Tamminga, R., et al
2004Genotype-phenotype correlation in patients suspected of having sotos syndrome.Boer, L.M.; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J., et al
2004Genetics and variation in phenotype in Noonan syndromeJongmans, M.J.; Otten, B.J.; Noordam, K.; Burgt, C.J.A. van der
2004Growth hormone treatment in cartilage-hair hypoplasia: effects on growth and the immune system.Bocca, G.; Weemaes, C.M.R.; Burgt, C.J.A. van der; Otten, B.J.
2004Alexithymia in Noonan syndromeVerhoeven, W.M.A.; Hendrikx, J.L.M.; Doorakkers, M.C.; Egger, J.I.M.; Burgt, C.J.A. van der, et al
1997Epilepsie bij patienten met het Angelman SyndroomRenier, W.O.; Burgt, C.J.A. van der; Zegers, F.H.T.
1997Het Angelman syndroomZegers, F.H.T.; Renier, W.O.; Burgt, C.J.A. van der
1997Growth hormone therapy in pre-pubertal children with Noonan syndrome : first year growth response and comparison with Turner syndromeSchepper, J. de; Otten, B.J.; Francois, I.; Bourguignon, J.P.; Craen, M., et al
1997A female patient with neurological, facial, digital and renal abnormalities: another case of the neurofaciodigitorenal (NFDR) syndrome?Rump, P.; Gruijters, M.Y.; Burgt, C.J.A. van der
1997Evolution of epilepsy and EEG findings in Angelman syndromeLaan, L.A.E.M.; Renier, W.O.; Arts, W.F.M.; Buntinx, I.M.; Burgt, C.J.A. van der, et al
1996Myopathology in patients with a Noonan phenotypeBoode, W.P. de; Semmekrot, B.A.; Laak, H.J. ter; Burgt, C.J.A. van der; Draaisma, J.M., et al
1996Myopathology in patients with a Noonan phenotypeBoode, W.P. de; Semmekrot, B.A.; Laak, H.J. ter; Burgt, C.J.A. van der; Draaisma, J.M., et al
1996Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new associationEnde, J.J. van den; Burgt, C.J.A. van der; Jansweijer, M.C.E.; Hamel, B.C.J.; Brunner, H.G.
1996Nijmegen breakage syndromeBurgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
1996Xeroderma pigmentosum-Cockayne syndrome complex : a further caseHamel, B.C.J.; Raams, A.; Schuitema-Dijkstra, A.R.; Simons, P.J.; Burgt, C.J.A. van der, et al
1996Nijmegen breakage syndromeBurgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
1996Nijmegen Breakage syndromeBurgt, C.J.A. van der; Chrzanowska, K.H.; Smeets, D.F.C.M.; Weemaes, C.M.R.
1995Further delineation of the Branchio-Oculo-Facial SyndromeLin, A.E.; Gorlin, R.; Lurie, I.W.; Brunner, H.G.; Burgt, C.J.A. van der, et al
1995Genetics and molecular biology in short statureMullis, P.E.; Argente, J.; Amselem, S.; Pfäffe, R.; Burgt, C.J.A. van der
Showing results 1 to 24 of 24

 

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