Zobrazeno 1 - 10
of 120
pro vyhledávání: '"Johan Den Dunnen"'
Autor:
Kristina M Hettne, Mark Thompson, Herman H H B M van Haagen, Eelke van der Horst, Rajaram Kaliyaperumal, Eleni Mina, Zuotian Tatum, Jeroen F J Laros, Erik M van Mulligen, Martijn Schuemie, Emmelien Aten, Tong Shu Li, Richard Bruskiewich, Benjamin M Good, Andrew I Su, Jan A Kors, Johan den Dunnen, Gert-Jan B van Ommen, Marco Roos, Peter A C 't Hoen, Barend Mons, Erik A Schultes
Publikováno v:
PLoS ONE, Vol 11, Iss 2, p e0149621 (2016)
High-throughput experimental methods such as medical sequencing and genome-wide association studies (GWAS) identify increasingly large numbers of potential relations between genetic variants and diseases. Both biological complexity (millions of poten
Externí odkaz:
https://doaj.org/article/ed3a1941c05b441ea220e91498549db3
Autor:
Irina, Pulyakhina, Isabella, Gazzoli, Peter A C, 't Hoen, Nisha, Verwey, Johan T, den Dunnen, Johan, den Dunnen, Annemieke, Aartsma-Rus, Jeroen F J, Laros
Publikováno v:
Nucleic Acids Research, 43(12)
Nucleic Acids Research
Nucleic Acids Research
Alternative splicing is a powerful mechanism present in eukaryotic cells to obtain a wide range of transcripts and protein isoforms from a relatively small number of genes. The mechanisms regulating (alternative) splicing and the paradigm of consecut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::350b84778e112b3bb93213c33525e4bd
http://hdl.handle.net/1887/105452
http://hdl.handle.net/1887/105452
Autor:
Lesley Summers, Christine Slingsby, Helen White, Michael Narebor, David Moss, Linda Miller, Daruka Mahadevan, Peter Lindley, Huub Driessen, Tom Blundell, Johan Den Dunnen, Rob Moormann, Rob Van Leen, John Schoenmakers
Publikováno v:
Ciba Foundation Symposium 106-Human Cataract Formation ISBN: 9780470720875
Ciba Foundation Symposium 106-Human Cataract Formation
Ciba Foundation Symposium 106-Human Cataract Formation
Knowledge of the three-dimensional structure of bovine gamma II-crystallin has provided the basis for building molecular models using computer graphics of two human gamma-crystallins, the sequences of which have recently been determined. The tertiary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f519349824bcc0dee7bd1ef1708317bb
https://doi.org/10.1002/9780470720875.ch13
https://doi.org/10.1002/9780470720875.ch13
Autor:
Passos-Bueno, M. R., Bakker, E., Kneppers, A. L. J., Takata, R. I., Rapaport, D., Johan den Dunnen, Zatz, M., Ommen, G. J. B.
Publikováno v:
Scopus-Elsevier
In about 65% of the cases of Duchenne muscular dystrophy (DMD) a partial gene deletion or duplication in the dystrophin gene can be detected. These mutations are clustered at two hot spots: 30% at the hot spot in the proximal part of the gene and abo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::204e5b08aa34cc74d9f627d77e2aa722
https://europepmc.org/articles/PMC1682835/
https://europepmc.org/articles/PMC1682835/
Autor:
Johan Den Dunnen
Publikováno v:
Nature Genetics. 11:104-104
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3a355290fd76e50336ef22471cf8428
https://doi.org/10.1038/ng0995-104c
https://doi.org/10.1038/ng0995-104c
Autor:
Bennett, Richard R.1 bennett@rascal.med.harvard.edu, Den Dunnen, Johan2 ddunnen@lumc.nl, O'Brien, Kristine F.3 kfobrien@mac.com, Darras, Basil T.4 darras_b@Hub.TCH.Harvard.edu, Kunkel, Louis M.1,3,5 kunkel@genetics.med.harvard.edu
Publikováno v:
BMC Genetics. 2001, Vol. 2, p17-12. 12p. 1 Diagram, 2 Charts, 3 Graphs.
Autor:
Schaafsma, Gerard C. P., Väliaho, Jouni, Wang, Qing, Berglöf, Anna, Zain, Rula, Smith, C. I. Edvard, Vihinen, Mauno
Publikováno v:
Human Mutation; 7/31/2023, p1-12, 12p
Autor:
Tommel, Judith, Kenis, Daan, Lambrechts, Nathalie, Brohet, Richard M., Swysen, Jordy, Mollen, Lotte, Hoefmans, Marie-José F., Pusparum, Murih, Evers, Andrea W. M., Ertaylan, Gökhan, Roos, Marco, Hens, Kristien, Houwink, Elisa J. F.
Publikováno v:
Genes; Apr2023, Vol. 14 Issue 4, p786, 35p
Publikováno v:
Molecular Syndromology; 2023, Vol. 14 Issue 1, p51-58, 8p