Zobrazeno 1 - 3
of 3
pro vyhledávání: '"S A, de Munnik"'
Autor:
B. van Lier, Luis A. Pérez-Jurado, Alexander Hoischen, Periklis Makrythanasis, I. van der Burgt, Ann Nordgren, Alexandre Reymond, Britt-Marie Anderlid, M. del Campo, Ivon Cuscó, L. Toledo, Jacqueline Schoumans, C. M. Kets, B W M van Bon, Michael A. Simpson, M. Ruiterkamp-Versteeg, Juliette Dupont, Margherita Silengo, E. Frysira, L. Izatt, Lucia Micale, Willie Reardon, Stavroula Psoni, Patricia Dias, Helger G. Yntema, Nicole Revencu, Joris A. Veltman, Bartolomeo Augello, Juliane Hoyer, Isabel Cordeiro, Tony Roscioli, Giuseppe Merla, Ernie M.H.F. Bongers, M. Bhat, Christian Gilissen, Stylianos E. Antonarakis, H. G. Santos, E. Galan, Elisa Biamino, Peer Arts, Blanca Gener, Shehla Mohammed, A. M. Cueto-Gonzalez, Marloes Steehouwer, Richard C. Trembath, Carlo Marcelis, B. B. A. de Vries, Christiane Zweier, Han G. Brunner, B. Rodriguez-Santiago, Raquel Flores, Charu Deshpande, Janneke H M Schuurs-Hoeijmakers, S. A. de Munnik, Ana Medeira, Teresa Vendrell, David A. Koolen, S. M. Granneman
Publikováno v:
Clinical Genetics. 84:539-545
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=doi_________::39eaa9d360ba5272c5f971c1f5c02e9a
https://doi.org/10.1111/cge.12081
https://doi.org/10.1111/cge.12081
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:
N. de Leeuw, Y. E. M. Thomasse, D. Olde Weghuis, G. J. van den Hoek, Carlo M. Marcelis, Joke B. G. M. Verheij, R. S. Rijlaarsdam, van Conny Ravenswaaij-Arts, S. A. de Munnik, Frederik G. Dikkers, T. Dijkhuizen
Publikováno v:
European Journal of Medical Genetics, 52, 5, pp. 353-7
European Journal of Medical Genetics, 52, 353-7
European journal of medical genetics, 52(5), 353-357. ELSEVIER SCIENCE BV
European Journal of Medical Genetics, 52, 353-7
European journal of medical genetics, 52(5), 353-357. ELSEVIER SCIENCE BV
Contains fulltext : 79985.pdf (Publisher’s version ) (Closed access) Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7f507bd03758b2a74e86d423622c89
https://pubmed.ncbi.nlm.nih.gov/19464398
https://pubmed.ncbi.nlm.nih.gov/19464398