Výsledky vyhledávání - Sabine Gijsen
- Zobrazuji výsledky 1 - 4 z 4
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Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement Autor Alejandro Estrada‐Cuzcano, Kornelia Neveling, Susanne Kohl, Eyal Banin, Ygal Rotenstreich, Dror Sharon, Tzipora C. Falik‐Zaccai, Stephanie Hipp, Ronald Roepman, Bernd Wissinger, Stef J.F. Letteboer, Dorus A. Mans, Ellen A.W. Blokland, Michael Kwint, Sabine Gijsen, Ramon A. C. van Huet, Rob W.J. Collin, Hans Scheffer, Joris A. Veltman, Eberhart Zrenner, Anneke I. den Hollander, B. Jeroen Klevering, Frans P.M. Cremers
Vydáno 2011Artigo -
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Next‐generation genetic testing for retinitis pigmentosa Autor Kornelia Neveling, Rob W.J. Collin, Christian Gilissen, Ramon A. C. van Huet, Linda Visser, Michael Kwint, Sabine Gijsen, Marijke N. Zonneveld, Nienke Wieskamp, Joep de Ligt, Anna M. Siemiatkowska, Lies H. Hoefsloot, Michael F. Buckley, Ulrich Kellner, Kari Branham, Anneke I. den Hollander, Alexander Hoischen, Carel B. Hoyng, B. Jeroen Klevering, L. Ingeborgh van den Born, Joris A. Veltman, Frans P.M. Cremers, Hans Scheffer
Vydáno 2012Artigo -
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome Autor Jean‐Baptiste Rivière, Bregje W.M. van Bon, Alexander Hoischen, Stanislav S. Kholmanskikh, Brian J. O’Roak, Christian Gilissen, Sabine Gijsen, Christopher T. Sullivan, Susan L. Christian, Omar Abdul‐Rahman, Joan Atkin, Nicolas Chassaing, Valérie Drouin‐Garraud, Andrew E. Fry, Jean‐Pierre Fryns, Karen W. Gripp, Marlies Kempers, Tjitske Kleefstra, Grazia M.S. Mancini, Małgorzata J.M. Nowaczyk, Conny M.A. van Ravenswaaij‐Arts, Tony Roscioli, Michael Marble, Jill A. Rosenfeld, Victoria Mok Siu, Bert B.A. de Vries, Jay Shendure, Alain Verloès, Joris A. Veltman, Han G. Brunner, M. Elizabeth Ross, Daniela T. Pilz, William B. Dobyns
Vydáno 2012Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Mutation
Phenotype
ABCA4
Allele
Apoptosis
CDKN2A
Cancer
Comparative genomic hybridization
Computational biology
Exome
Exome sequencing
Exon
Genetic analysis
Genetic heterogeneity
Genetic testing
Genome
Genotype
In silico
Indel
Lissencephaly
Loss of heterozygosity
Medical genetics
Medicine
Missense mutation
Molecular biology
Molecular diagnostics
Molecular genetics