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pro vyhledávání: '"D, Lindhout"'
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Autor:
T. Tomson, D. Battino, E. Bonizzoni, J. Craig, D. Lindhout, A. Sabers, E. Perucca, F. Vajda, E. U. R. . A. P. study group, TINUPER, PAOLO, BISULLI, FRANCESCA
Publikováno v:
The Lancet Neurology. 10:609-617
Summary Background Prenatal exposure to antiepileptic drugs is associated with a greater risk of major congenital malformations, but there is inadequate information on the comparative teratogenicity of individual antiepileptic drugs and the associati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54bf9785dff0ed06e58e7221996c465e
https://doi.org/10.1016/s1474-4422(11)70107-7
https://doi.org/10.1016/s1474-4422(11)70107-7
Autor:
O. Dulac, S. Jain, D. Lindhout, M. Gardiner, A. Scaramelli, M. Laue-Friis, Jeffrey L. Noebels, K. Weiss, Samuel F. Berkovic, Jurg Ott, K. Lindblad-Toh, Joan E. Bailey-Wilson, R. Fischbach, Ruth Ottman, K. Gwinn-Hardy, O. Steinlein, Mark Leppert, E. Anderson, Giuliano Avanzini, J. Serratosa, L. Cardon
Publikováno v:
Epilepsia. 43:1262-1267
Epilepsy is a diagnosis encompassing >40 clinical syndromes consisting of biochemical, anatomic, and physiologic changes that lead to recurrent seizures. Abundant evidence of a genetic contribution to the epilepsies derives from a variety of sources,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d421a183ca13057e6b2645c1b9008c36
https://doi.org/10.1046/j.1528-1157.2002.29502.x
https://doi.org/10.1046/j.1528-1157.2002.29502.x
Publikováno v:
Scopus-Elsevier
In 1986, 23 patients with renal angiomyolipomas as part of tuberous sclerosis were assessed by ultrasonography. In 1991, 20 patients in this group were reexamined with special attention paid to the renal pathological condition. Ultrasonography was pe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89a1dae7b17e2147302321ac776d4b93
https://doi.org/10.1016/s0022-5347(17)32809-4
https://doi.org/10.1016/s0022-5347(17)32809-4
Autor:
Commission Members: E. Anderson, S. Berkovic, O. Dulac, M. Gardiner, S. Jain, M. Laue Friis, D. Lindhout, J. Noebels, R. Ottman, A. Scaramelli, J. Serratosa, O. Steinlein
Publikováno v:
Epilepsia. 43:1600-1602
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::44947e4e087df9fa998ea21fec81a1a5
https://doi.org/10.1046/j.1528-1157.2002.t01-1-04312.x
https://doi.org/10.1046/j.1528-1157.2002.t01-1-04312.x
Autor:
E. E. van Vught, D. Lindhout, Titia E. Cohen-Overbeek, J. N. van den Anker, G. R. J. Zandwijken
Publikováno v:
Scopus-Elsevier
We report on 5 individuals with severe limb abnormalities born in our hospital within a period of 45 days. Detailed clinical descriptions, photographs, and radiographs are presented. Etiological evaluations included genetic background, obstetric hist
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8db1a24147feed558528eed0e807cbf0
https://doi.org/10.1002/ajmg.1320450528
https://doi.org/10.1002/ajmg.1320450528
Publikováno v:
Annals of the New York Academy of Sciences. 630:223-229
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e6a7228a9f7a13f9755de9b63c1b55f
https://doi.org/10.1111/j.1749-6632.1991.tb19591.x
https://doi.org/10.1111/j.1749-6632.1991.tb19591.x
Publikováno v:
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin. 174(7)
To prove that bilateral hereditary micro-epiphyseal dysplasia (BHMED), first described by Elsbach in 1959, is a distinct disorder radiologically as well as clinically, compared with multiple epiphyseal dysplasia (MED).We used the data of the revised
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::17bf178a174d4c9e8b5f09739ed0f381
https://pubmed.ncbi.nlm.nih.gov/12101480
https://pubmed.ncbi.nlm.nih.gov/12101480
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 146(18)
Progressive myoclonus epilepsy type 1 of Unverricht-Lundborg (EPM1) is a rare disorder, associated with mutations in the cystatin B (CSTB) gene. The most prevalent molecular abnormality is an expansion of a dodecamer repeat in the promoter region of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8536d01ff3eb18c6cd0283ecc1ade6b
https://pubmed.ncbi.nlm.nih.gov/12038222
https://pubmed.ncbi.nlm.nih.gov/12038222
Autor:
Jian Luo, Hui Tian, Lei Ling, S. Rossi, Alex M. DePaoli, B. Ko, D. Lindhout, C. To, T. Parsons, J.L. Chen
Publikováno v:
Journal of Hepatology. 60:S531
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3c99faa93be009a6962814a8cfb58d20
https://doi.org/10.1016/s0168-8278(14)61475-6
https://doi.org/10.1016/s0168-8278(14)61475-6