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Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy

Kristof Van Schil UGent, Marcus Karlstetter, Françoise Meire, Miriam Bauwens UGent, Hannah Verdin UGent, Frauke Coppieters, Eva Scheiffert, Nicolas Deconinck, Thomas Langmann and Elfride De Baere UGent (2014) EUROPEAN JOURNAL OF HUMAN GENETICS. 22(suppl. 1). p.83-84
Please use this url to cite or link to this publication:
author
organization
alternative title
Homozygous deletion of glutamate receptor gene GRID2 causes early-onset cerebellar ataxia and retinal dystrophy
year
type
conference (poster)
publication status
published
subject
in
EUROPEAN JOURNAL OF HUMAN GENETICS
Eur. J. Hum. Genet.
volume
22
issue
suppl. 1
article number
abstract P02.37-S
pages
83 - 84
conference name
European Human Genetics Conference 2014 (ESHG 2014)
conference location
Milan, Italy
conference start
2014-05-31
conference end
2014-06-3
JCR category
GENETICS & HEREDITY
JCR impact factor
4.349 (2014)
JCR rank
36/167 (2014)
JCR quartile
1 (2014)
ISSN
1018-4813
language
English
UGent publication?
yes
classification
C3
id
8555697
handle
http://hdl.handle.net/1854/LU-8555697
alternative location
https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf
date created
2018-03-14 16:38:57
date last changed
2018-05-17 07:49:18
@inproceedings{8555697,
  articleno    = {abstract P02.37-S},
  author       = {Van Schil, Kristof and Karlstetter, Marcus and Meire, Fran\c{c}oise and Bauwens, Miriam and Verdin, Hannah and Coppieters, Frauke and Scheiffert, Eva and Deconinck, Nicolas and Langmann, Thomas and De Baere, Elfride},
  booktitle    = {EUROPEAN JOURNAL OF HUMAN GENETICS},
  issn         = {1018-4813},
  language     = {eng},
  location     = {Milan, Italy},
  number       = {suppl. 1},
  pages        = {abstract P02.37-S:83--abstract P02.37-S:84},
  title        = {Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy},
  url          = {https://www.eshg.org/fileadmin/www.eshg.org/conferences/2014/ESHG2014Abstracts1.pdf},
  volume       = {22},
  year         = {2014},
}

Chicago
Van Schil, Kristof, Marcus Karlstetter, Françoise Meire, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Eva Scheiffert, Nicolas Deconinck, Thomas Langmann, and Elfride De Baere. 2014. “Homozygous Deletion of Glutamate Receptor Gene GRID2 Causes New Human Hotfoot Mutant Phenotype, Characterized by Early-onset Cerebellar Ataxia and Retinal Dystrophy.” In European Journal of Human Genetics, 22:83–84.
APA
Van Schil, K., Karlstetter, M., Meire, F., Bauwens, M., Verdin, H., Coppieters, F., Scheiffert, E., et al. (2014). Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy. EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 22, pp. 83–84). Presented at the European Human Genetics Conference 2014 (ESHG 2014).
Vancouver
1.
Van Schil K, Karlstetter M, Meire F, Bauwens M, Verdin H, Coppieters F, et al. Homozygous deletion of glutamate receptor gene GRID2 causes new human hotfoot mutant phenotype, characterized by early-onset cerebellar ataxia and retinal dystrophy. EUROPEAN JOURNAL OF HUMAN GENETICS. 2014. p. 83–4.
MLA
Van Schil, Kristof, Marcus Karlstetter, Françoise Meire, et al. “Homozygous Deletion of Glutamate Receptor Gene GRID2 Causes New Human Hotfoot Mutant Phenotype, Characterized by Early-onset Cerebellar Ataxia and Retinal Dystrophy.” European Journal of Human Genetics. Vol. 22. 2014. 83–84. Print.