Zobrazeno 1 - 4
of 4
pro vyhledávání: '"C L, Marcelis"'
Autor:
P, Makrythanasis, B W, van Bon, M, Steehouwer, B, Rodríguez-Santiago, M, Simpson, P, Dias, B M, Anderlid, P, Arts, M, Bhat, B, Augello, E, Biamino, E M H F, Bongers, M, Del Campo, I, Cordeiro, A M, Cueto-González, I, Cuscó, C, Deshpande, E, Frysira, L, Izatt, R, Flores, E, Galán, B, Gener, C, Gilissen, S M, Granneman, J, Hoyer, H G, Yntema, C M, Kets, D A, Koolen, C l, Marcelis, A, Medeira, L, Micale, S, Mohammed, S A, de Munnik, A, Nordgren, S, Psoni, W, Reardon, N, Revencu, T, Roscioli, M, Ruiterkamp-Versteeg, H G, Santos, J, Schoumans, J H M, Schuurs-Hoeijmakers, M C, Silengo, L, Toledo, T, Vendrell, I, van der Burgt, B, van Lier, C, Zweier, A, Reymond, R C, Trembath, L, Perez-Jurado, J, Dupont, B B A, de Vries, H G, Brunner, J A, Veltman, G, Merla, S E, Antonarakis, A, Hoischen
Publikováno v:
Clinical Genetics, Vol. 84, No 6 (2013) pp. 539-545
Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined pati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::e33eea67463edf00917a5757ee093e1b
http://hdl.handle.net/2318/140450
http://hdl.handle.net/2318/140450
Autor:
Roselie Jongbloed, Johan Saenen, Aimee D C Paulussen, C. L Marcelis, Dirk J. Snyders, Adam Raes, Jeroen Aerssens, Ron A. H. J. Gilissen
Publikováno v:
Journal of Molecular and Cellular Cardiology, 43, 63-72
Journal of molecular and cellular cardiology
Journal of Molecular and Cellular Cardiology, 43, 1, pp. 63-72
Journal of molecular and cellular cardiology
Journal of Molecular and Cellular Cardiology, 43, 1, pp. 63-72
Contains fulltext : 52042.pdf (Publisher’s version ) (Closed access) The long QT syndrome (LQTS) is a multi-factorial disorder that predisposes to life-threatening arrhythmias. Both hereditary and acquired subforms have been identified. Here, we pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b6a66986f26d626174ab0e0d2997df7
http://hdl.handle.net/2066/52042
http://hdl.handle.net/2066/52042
Publikováno v:
Familial cancer. 1(2)
Hereditary Non-Polyposis Colorectal Cancer (HNPCC, Lynch syndrome) is an autosomal dominant condition of cancer susceptibility with high penetrance, characterised by early onset of colon tumours as well as a variety of extracolonic tumours including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::278f4876ae5986be8377c37fd3ce307e
https://pubmed.ncbi.nlm.nih.gov/14574006
https://pubmed.ncbi.nlm.nih.gov/14574006
Publikováno v:
American journal of medical genetics. 99(1)
We report on a newborn boy with a congenital heart defect, severe pre- and postnatal growth retardation, feeding problems, facial anomalies and unilateral hydronephrosis. Cytogenetic analysis showed extra chromosomal material on the short arm of one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd07daf0083ca4e7bc737dc780fa5951
https://pubmed.ncbi.nlm.nih.gov/11170093
https://pubmed.ncbi.nlm.nih.gov/11170093