Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Group by: Item Type | Date | No Grouping
Number of items: 4.

Van Schil, Kristof, Karlstetter, Marcus, Meire, Francoise, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Scheiffert, Eva, Deconinck, Nicolas, Langmann, Thomas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2014). Homozygous deletion of glutamate receptor gene GRID2 causes new hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy. Invest. Ophthalmol. Vis. Sci., 55 (13). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Van Schil, Kristof, Meire, Francoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet. Med., 17 (4). S. 291 - 300. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Van Schil, Kristof, Meire, Francoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2015). Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion. Genet. Med., 17 (4). S. 291 - 300. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

Van Schil, Kristof, Naessens, Sarah, Van de Sompele, Stijn ORCID: 0000-0002-3294-0668, Carron, Marjolein, Aslanidis, Alexander, Van Cauwenbergh, Caroline ORCID: 0000-0002-1948-9091, Mayer, Anja Kathrin, Van Heetvelde, Mattias, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke ORCID: 0000-0001-7224-0992, Greenberg, Michael E., Yang, Marty G., Karlstetter, Marcus, Langmann, Thomas, De Preter, Katleen, Kohl, Susanne, Cherry, Timothy J., Leroy, Bart P. and De Baere, Elfride ORCID: 0000-0002-5609-6895 (2018). Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. Genet. Med., 20 (2). S. 202 - 214. NEW YORK: NATURE PUBLISHING GROUP. ISSN 1530-0366

This list was generated on Thu Dec 2 01:43:27 2021 CET.