Zobrazeno 1 - 6
of 6
pro vyhledávání: '"M. C. Van Rij"'
Autor:
P. F. Ippel, J. A. Maat-Kievit, J.P.M. Geraedts, Emilia K. Bijlsma, Cora M. Aalfs, M. C. van Rij, Monique Losekoot, Corien C. Verschuuren-Bemelmans, Mariet W. Elting, R A C Roos, Sascha Vermeer, M. J. van Belzen, Aad Tibben, R. D. M. Belfroid, P. A. M. de Koning Gans, C. E. M. De Die-Smulders
Publikováno v:
Clinical Genetics. 85:78-86
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8ff6e5d016faaa9d3971fe82d792f30
https://doi.org/10.1111/cge.12090
https://doi.org/10.1111/cge.12090
Autor:
R. A. C. Roos, Emilia K. Bijlsma, M. C. van Rij, P. A. M. de Koning Gans, C. E. M. De Die-Smulders, J.P.M. Geraedts, M. J. van Belzen, M. De Rademaeker
Publikováno v:
Clinical Genetics. 85:87-95
We aimed to study reproductive behaviour of couples opting for prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD) for Huntington's disease (HD). In the Netherlands, exclusion PND is available for persons at 50% risk, whereas exclus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ae8ff51780c738b8152883f9e3cf0deb
https://doi.org/10.1111/cge.12089
https://doi.org/10.1111/cge.12089
Autor:
Raymund A.C. Roos, C.E.M. de Die-Smulders, Emilia K. Bijlsma, G. de Wert, Aad Tibben, J.P.M. Geraedts, M. C. van Rij
Publikováno v:
Clinical Genetics, 83(2), 118-124. Wiley
Clinical Genetics, 83(2), 118-124. Wiley-Blackwell Publishing Ltd
Clinical Genetics, 83(2), 118-124. Wiley-Blackwell Publishing Ltd
van Rij MC, de Die-Smulders CEM, Bijlsma EK, de Wert GMWR, Geraedts JP, Roos RAC, Tibben A. Evaluation of exclusion prenatal and exclusion preimplantation genetic diagnosis for Huntington's disease in the Netherlands. Individuals at 50% risk of Hunti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c57fbee90ef995b3582078ae4a81500
https://doi.org/10.1111/cge.12058
https://doi.org/10.1111/cge.12058
Autor:
R. van Doorn, Claudia A. L. Ruivenkamp, S. G. Kant, A. P. Oranje, N. M. Appelman-Dijkstra, M. C. van Rij, K. Mulder, Kerstin Hansson, M. L. Grijsen
Publikováno v:
European Journal of Pediatrics
European Journal of Pediatrics, 176(2), 279-283
European Journal of Pediatrics, 176(2), 279-283
We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from a novel disease entity designated as calcinosis cutis, osteoma cutis, poikiloderma and ske
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b513db2f653e68a8ccd87f936bbfedba
https://pubmed.ncbi.nlm.nih.gov/28039508
https://pubmed.ncbi.nlm.nih.gov/28039508
Autor:
M. Emery, D. Wirthner, M. Germond, M. C. Van Rij, R. Lulofs, N. Muntjewerff, J. L. H. Evers, J. P. M. Geraedts, C. E. M. de Die, F. Vansenne, M. Goddijn, B. Redeker, S. Snijder, K. Gerssen-Schoorl, H. H. Lemmink, N. J. Leschot, F. Van der Veen, P. M. M. Bossuyt, C. A. J. M. De Borgie, J. Nekkebroeck, D. Stoop, P. Devroey, V. Provoost, G. Pennings, P. De Sutter, J. Gerris, A. Vandevelde, M. Dhont, C. M. Verhaak, J. W. M. Aarts, J. Boivin, J. A. M. Kremer, I. W. H. van Empel
Publikováno v:
Human Reproduction. 25:i14-i17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2e803795352a6bdfdf79355f3abe5946
https://doi.org/10.1093/humrep/de.25.s1.7
https://doi.org/10.1093/humrep/de.25.s1.7
Autor:
M C, van Rij, P A M, de Koning Gans, C M, Aalfs, M, Elting, P F, Ippel, J A, Maat-Kievit, S, Vermeer, C C, Verschuuren-Bemelmans, M J, van Belzen, R D M, Belfroid, M, Losekoot, J P M, Geraedts, R A C, Roos, A, Tibben, C E M, de Die-Smulders, E K, Bijlsma
Publikováno v:
Clinical genetics. 85(1)
This study aims to give an overview of the number of prenatal tests for Huntington's disease (HD), test results, and pregnancy outcomes in the Netherlands between 1998 and 2008 and to compare them with available data from the period 1987 to 1997. A t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0853d680886b60aa117b7f854f362c8d
https://pubmed.ncbi.nlm.nih.gov/23350614
https://pubmed.ncbi.nlm.nih.gov/23350614