Recurrent Mutation 4882delTT in the GAP-Related Domain of the Tuberous Sclerosis TSC2 Gene

Autor: S. Jozwiak, A. M. W. Van Den Ouweland, J.H. Begeer, Radek Vrtel, J. Zaremba, Dick Lindhout, Senno Verhoef, A. Tempelaars, D. J. J. Halley, I. Stolte-Dijkstra, L. Bakker, Mark Nellist

Publikováno v: Human Mutation, 85-87. Wiley-Liss Inc.
ISSUE=supplement;STARTPAGE=85;ENDPAGE=87;ISSN=1059-7794;TITLE=Human Mutation
Human Mutation, suppl. 1, 85-87. Wiley-Liss Inc.
Human Mutation, S85-S87. Wiley
STARTPAGE=S85;ENDPAGE=S87;ISSN=1059-7794;TITLE=Human Mutation

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0d16296b1eb13077214257e09dd4717
https://pure.eur.nl/en/publications/84fb1fc8-abb8-4620-807e-12384dc9a3d6

Scientific Meeting of the Netherlands Society of Child Neurology held in Groningen, 29th November 1985

Autor: C.H.C.M. Buys, R.I. HoogenEsch, J.H. Begeer, J. Aicardi, M.K. Neidhardt, W.A. Kamps, D.M. Mehta, J.A. Leeuw, G.B. Humphrey, J.H. van der Hoeven, M.J. Ploos van Amstel, M.M. van den Briel, A. Kingma

Publikováno v: Clinical Neurology and Neurosurgery. 88:313-317

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3e2284974c2989b35b5b9949f60c270
https://doi.org/10.1016/s0303-8467(86)80053-1

Cranio-vertebral pathology in Down syndrome

Autor: J.P. Braakhekke, Willy O. Renier, J.H. Begeer, T. J. G. van Rens, H.O.M. Thijssen, Fons J. M. Gabreëls

Publikováno v: Clinical neurology and neurosurgery. 87(3)

Cranio-vertebral malformations, especially atlanto-axial dislocation, are frequently seen in Down patients. However, symptomatic forms in mongolism are rare. Pyramidal signs have a signal value. In symptomatic malformations surgical treatment should

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46d994457f5652134cebc8678cac363a
https://pubmed.ncbi.nlm.nih.gov/2932274

[Untitled]

Autor: J.H. Begeer

Publikováno v: Clinical Neurology and Neurosurgery. 79:78

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f522b0b4fc72b2951cef88368444ab0b
https://doi.org/10.1016/s0303-8467(76)80018-2

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