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La Presse Médicale, ISSN 0755-4982, 04/2018, Volume 47, Issue 4, pp. 413 - 415
Journal Article
La Presse Médicale, ISSN 0755-4982, 07/2019, Volume 48, Issue 7-8, pp. 871 - 873
Journal Article
PRESSE MEDICALE, ISSN 0755-4982, 04/2018, Volume 47, Issue 4, pp. 413 - 415
Journal Article
PLOS GENETICS, ISSN 1553-7404, 03/2015, Volume 11, Issue 3, p. e1005097
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2019, Volume 105, Issue 4, pp. 869 - 878
Intellectual disability (ID) is a genetically and clinically heterogeneous disorder, characterized by limited cognitive abilities and impaired adaptive... 
microcephaly | METTL5 | zebrafish | autosomal recessive intellectual disability | m6A methyltransferase | intellectual disability | facial dysmorphism | METHYLTRANSFERASE | ZEBRAFISH | GENOMICS | GENE | NSUN2 | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | Usage | Care and treatment | Genetic aspects | Nucleotide sequencing | Microcephaly | Mental retardation | Risk factors | DNA sequencing
Journal Article
Human Mutation, ISSN 1059-7794, 01/2019, Volume 40, Issue 1, pp. 53 - 72
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2015, Volume 11, Issue 3
  Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous... 
Proteins | Mitochondria | Brain research | Mutation | Grants | Hearing impairment | Experiments | Patients
Journal Article
PLoS Genetics, ISSN 1553-7390, 09/2013, Volume 9, Issue 9
Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is... 
Proteins | Motility | Cytoskeleton | Ears & hearing | Mutation | Hearing impairment | Cell adhesion & migration
Journal Article
Journal Article
Journal Article