Nijmegen Breakage Syndrome. The International Nijmegen Breakage Syndrome Study Group

Autor: Hiel, J.A.P., Weemaes, C.M.R., Heuvel, L.P.W.J. van den, Engelen, B.G.M. van, Gabreëls, F.J.M., Smeets, D.F.C.M., Burgt, C.J.A.M. van der, Chrzanowska, K.H., Bernatowska, E.

Publikováno v: Archives of Disease in Childhood, 82, 400-406
Archives of Disease in Childhood, 82, pp. 400-406

Item does not contain fulltext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::dd356bcdb07d8387ed850f748a8891e5
https://hdl.handle.net/2066/173002

Ataxia telangiectasia and Nijmegen breakage syndrome; neurological, immunological and genetic aspects

Autor: Hiel, J.A.P.

Contains fulltext : 59246.pdf (Publisher’s version ) (Open Access) Ataxia telangiectasia (AT) and Nijmegen breakage syndrome (NBS) are rare autosomal recessive conditions caused by mutations in respectively ATM and NBS1. The encoding proteins ATM a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1a9334aa133d8e429d4c777e7fb8375a
https://hdl.handle.net/2066/59246

Nijmegen breakage syndrome: a neuropathological study

Autor: Lammens, M.M.Y., Hiel, J.A.P., Gabreëls, F.J.M., Engelen, B.G.M. van, Heuvel, L.P.W.J. van den, Weemaes, C.M.R.

Publikováno v: Neuropediatrics, 34, 4, pp. 189-93
Neuropediatrics, 34, 189-93

Item does not contain fulltext Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder, due to defects in the NBS1 gene and belongs to the DNA repair disorders. We report neuropathological findings of the first ever recognised case of the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::29f17c9a70f0a5914791deeb185cad9b
https://hdl.handle.net/2066/122332

Toxoplasmic retinitis nine months after allogeneic bone marrow transplantation

Autor: Brinkman, K., Bast, S., Ooyman, F., Hiel, J.A.P., Raemaekers, J.M.M.

Publikováno v: Bone Marrow Transplantation, 21, 635-636
Bone Marrow Transplantation, 21, pp. 635-636

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Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::173bd4bf9a484575a710b1cd56122d1d
http://hdl.handle.net/2066/257486

Mitochondriele encefalomyopathie, lactaatacidose en stroke-like episodes (melas): een zeldzame oorzaak van 'stroke' op jongvolwassen leeftijd

Autor: Hiel, J.A.P., Verrips, A., Gabreëls, F.J.M., Keyser, A., Wesseling, P., Ruitenbeek, W.

Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 53, 5, pp. 339-344
Nederlands Tijdschrift voor Geneeskunde, 53, 339-344
Tijdschrift voor Geneeskunde, 53, 5, pp. 339-344
Tijdschrift voor Geneeskunde, 53, 339-344

Contains fulltext : 24418___.PDF (Publisher’s version ) (Open Access)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0ddef30f61787c29fbcb3b7714e9e6c7
https://hdl.handle.net/2066/142544